105458-4
Lysosomal and peroxisomal storage disorders panel - DBS
Active
62301-7 Lysosomal storage disorders newborn screen interpretation
Part Descriptions
LP111174-1 Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.
Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- LSD DBS-Imp
- Display Name
- Lysosomal storage disorders (DBS) [Interp]
- Consumer Name Alpha Get Info
- Lysosomal storage disorders, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.71
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
Answer | Code | Score | Answer ID |
---|---|---|---|
In range | LA18592-8 | ||
Borderline | LA4259-3 | ||
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
Out of range | LA18593-6 | ||
Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
Out of range requiring immediate referral | LA25817-0 | ||
Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
One or more tests pending | LA16204-2 | ||
Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
LOINC | Long Common Name |
---|---|
104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
62300-9 | Lysosomal storage disorders newborn screening panel |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Trastornos de almacenamiento lisosomal: |
es-MX | Spanish (Mexico) | Trastornos por almacenamiento lisosómico: |
fr-FR | French (France) | Maladie lysosomiales: |
fr-BE | French (Belgium) | Lysosomes.Maladie stockage.: |
it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte: |
pt-BR | Portuguese (Brazil) | Doenças de depósito lisossômico: |
ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
tr-TR | Turkish (Turkey) | Lizozomal depo bozukluğu: |
zh-CN | Chinese (China) | 溶酶体贮积症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
90923-4 Lysophosphatidylcholine(26:0) [Mass/volume] in DBS
Part Descriptions
LP200432-5 Lysophosphatidylcholine(26:0)
Lysophosphatidylcholine(26:0), or LysoPC(26:0), is a lysophospholipid (LyP) and diagnostic marker for X-linked adrenoleukodystrophy (X-ALD), peroxisomal biogenesis disorders (PBD) and single enzyme defects (SED) of peroxisomal fatty acid oxidation. PMID: 19423374 For newborn screening, 26:0 lyso-PC is measured in dried blood spots (DBS) for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Lysophosphatidylcholine(26:0)
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- LysoPC(26:0) DBS-mCnc
- Display Name
- LysoPC(26:0) (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- LysoPC(26:0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.65
- Last Updated
- Version 2.65
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
105457-6 | Lysophosphatidylcholines panel - DBS |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
Member of these Groups Get Info
LOINC Group | Group Name |
---|---|
LG50129-2 | Lysophosphatidylcholine(26: |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Lisofosfatidilcolina (26: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Lisofosfatidilcolina (26: |
fr-FR | French (France) | Lysophosphatidylcholine(26: |
it-IT | Italian (Italy) | Lisofosfatidilcolina(26: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | lysofosfatidylcholine(26: |
tr-TR | Turkish (Turkey) | Lizofosfatidilkolin(26: |
zh-CN | Chinese (China) | 溶血磷脂酰胆碱(26: Synonyms: 全血斑点(滤纸); |
Example Units
Unit | Source |
---|---|
ug/dL | Example UCUM Units |
90922-6 Lysophosphatidylcholine(24:0) [Mass/volume] in DBS
Part Descriptions
LP269796-1 Lysophosphatidylcholine(24:0)
Lysophosphatidylcholine(24:0), or LysoPC(24:0), is a lysophospholipid (LyP). It is a monoglycerophospholipid in which a phosphorylcholine moiety occupies a glycerol substitution site Further, LysolPC(24:0) consists of one chain of lignoceric acid at the C-1 (sn-1) position. [HMDB ID: 0010405] LysoPC(24:0) is measured in dried blood spots (DBS) and used in conjunction with other Lysophosphatidylcholines for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Lysophosphatidylcholine(24:0)
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- LysoPC(24:0) DBS-mCnc
- Display Name
- LysoPC(24:0) (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- LysoPC(24:0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.65
- Last Updated
- Version 2.65
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
105457-6 | Lysophosphatidylcholines panel - DBS |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Lisofosfatidilcolina (24: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Lisofosfatidilcolina (24: |
fr-FR | French (France) | Lysophosphatidylcholine(24: |
it-IT | Italian (Italy) | Lisofosfatidilcolina(24: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
zh-CN | Chinese (China) | 溶血磷脂酰胆碱(24: Synonyms: 全血斑点(滤纸); |
Example Units
Unit | Source |
---|---|
ug/dL | Example UCUM Units |
90921-8 Lysophosphatidylcholine(22:0) [Mass/volume] in DBS
Part Descriptions
LP269794-6 Lysophosphatidylcholine(22:0)
Lysophosphatidylcholine(22:0), or LysoPC(22:0), is a lysophospholipid (LyP); it is a monoglycerophospholipid in which a phosphorylcholine moiety occupies a glycerol substitution site. Further, LysoPC(22:0) consists of one chain of behenic acid at the C-1 (sn-1) position. [HMDB ID: 0010398] LysoPC(22:0) is measured in dried blood spots (DBS) and used in conjunction with other Lysophosphatidylcholines for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Lysophosphatidylcholine(22:0)
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- LysoPC(22:0) DBS-mCnc
- Display Name
- LysoPC(22:0) (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- LysoPC(22:0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.65
- Last Updated
- Version 2.65
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
105457-6 | Lysophosphatidylcholines panel - DBS |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Lisofosfatidilcolina (22: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Lisofosfatidilcolina (22: |
fr-FR | French (France) | Lysophosphatidylcholine(22: |
it-IT | Italian (Italy) | Lisofosfatidilcolina(22: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
zh-CN | Chinese (China) | 溶血磷脂酰胆碱(22: Synonyms: 全血斑点(滤纸); |
Example Units
Unit | Source |
---|---|
ug/dL | Example UCUM Units |
90920-0 Lysophosphatidylcholine(20:0) [Mass/volume] in DBS
Part Descriptions
LP269795-3 Lysophosphatidylcholine(20:0)
Lysophosphatidylcholine(20:0), or LysoPC(20:0), lysophospholipid (LyP); it is a monoglycerophospholipid in which a phosphorylcholine moiety occupies a glycerol substitution site, more specificially it consists of one chain of arachidic acid at the C-1 (sn-1) position. [HMDB ID: 0010390]
LysoPC(20:0) is an endogenously present analog of LysoPC(26:0). LysoPC(20:0) levels are measured in dried blood spots (DBS) and are used with Lysophosphatidylcholine(26:0) levels as a ratio (LysoPC26:0/LysoPC20:0) to monitor increases in LysoPC(26:0) accumulation in patients with X-linked adrenoleukodystrophy (X-ALD). PMID: 27331004
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Lysophosphatidylcholine(20:0)
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- LysoPC(20:0) DBS-mCnc
- Display Name
- LysoPC(20:0) (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- LysoPC(20:0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.65
- Last Updated
- Version 2.65
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
105457-6 | Lysophosphatidylcholines panel - DBS |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Lisofosfatidilcolina (20: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Lisofosfatidilcolina (20: |
fr-FR | French (France) | Lysophosphatidylcholine(20: |
it-IT | Italian (Italy) | Lisofosfatidilcolina(20: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
zh-CN | Chinese (China) | 溶血磷脂酰胆碱(20: Synonyms: 全血斑点(滤纸); |
Example Units
Unit | Source |
---|---|
ug/dL | Example UCUM Units |
79462-8 Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14029-0 Iduronate-2-Sulfatase
Iduronate-2-sulfate levels detect Hurler syndrome. Specimens include fibroblasts and WBC.
Source: Regenstrief Institute
Fully-Specified Name
- Component
- Iduronate-2-Sulfatase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Iduronate2Sulfatas DBS-cCnc
- Display Name
- Iduronate-2-Sulfatase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Iduronate-2-Sulfatase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
104188-8 | Mucopolysaccharidosis type II newborn screening panel |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Iduronato 2-Sulfatasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Iduronato-2-sulfatasa: |
et-EE | Estonian (Estonia) | Iduronaat-2-sulfataas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Iduronate-2-sulfatase: |
fr-FR | French (France) | Iduronate-2-sulfatase: |
fr-BE | French (Belgium) | Iduronate-2-sulfatase: |
it-IT | Italian (Italy) | Iduronato-2-Solfatasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | iduronaat-2-sulfatase: |
ru-RU | Russian (Russian Federation) | Идуронат-2-сульфатаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Iduronat-2-sülfataz: |
zh-CN | Chinese (China) | 艾杜糖-2-硫酸酯酶: Synonyms: Ⅱ Hunter 病; |
Example Units
Unit | Source |
---|---|
nmol/h/mL | Example UCUM Units |
55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14016-7 Alpha-L-iduronidase
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Alpha-L iduronidase
Fully-Specified Name
- Component
- Alpha-L-iduronidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-L-Iduronidase DBS-cCnc
- Display Name
- Alpha-L-iduronidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Alpha-L-iduronidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
62300-9 | Lysosomal storage disorders newborn screening panel |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Alpha-Iduronidase /BT |
es-ES | Spanish (Spain) | Alfa-L-iduronidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Alfa-L-iduronidasa: |
et-EE | Estonian (Estonia) | Alfa-L-iduronidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Alpha-L-iduronidase: |
fr-FR | French (France) | Alpha L-idurodinase: |
fr-BE | French (Belgium) | Alpha-L-iduronidase: |
it-IT | Italian (Italy) | Alfa-L-iduronidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | alfa-L-iduronidase: |
pt-BR | Portuguese (Brazil) | Alfa-L-iduronidase: Synonyms: ; |
ru-RU | Russian (Russian Federation) | Альфа-L-идуронидазы: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Alfa-L-iduronidaz: |
zh-CN | Chinese (China) | Alpha-L-艾杜糖苷酶: Synonyms: Alpha-L-艾杜糖醛酸苷酶; |
Example Units
Unit | Source |
---|---|
umol/h/L | Example UCUM Units |
55908-8 Alpha galactosidase A [Enzymatic activity/volume] in DBS
Term Description
This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
Source: Regenstrief LOINC
Part Descriptions
LP14012-6 Alpha galactosidase A
Alpha (A) galactosidase is an enzyme used in sphingolipid metabolism. The deficiency of the enzyme leads to accumulation of various products that may lead to Fabry's disease, which is lysosomal storage disorder.
Source: Regenstrief Institute
Reference Information
Type | Source | Reference |
---|---|---|
Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Alpha galactosidase A
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-Galactosidase A DBS-cCnc
- Display Name
- Alpha galactosidase A (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Alpha Galactosidase A, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
62300-9 | Lysosomal storage disorders newborn screening panel |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Alpha-Galaktosidase /BT |
es-ES | Spanish (Spain) | Alfa galactosidasa A: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Alfa galactosidasa A: |
et-EE | Estonian (Estonia) | Alfagalaktosidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Alpha galactosidase A: |
fr-FR | French (France) | Alpha galactosidase A: |
fr-BE | French (Belgium) | Alpha galactosidase A: |
it-IT | Italian (Italy) | Alfa galattosidasi A: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | alfa-galactosidase A: |
pt-BR | Portuguese (Brazil) | Alfa galactosidase: Synonyms: ; |
ru-RU | Russian (Russian Federation) | Альфа галактозидаза A: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Alfa galaktozidaz A: |
zh-CN | Chinese (China) | Alpha 半乳糖苷酶: Synonyms: A 型 A-D-半乳糖苷酶; |
Example Units
Unit | Source |
---|---|
umol/L/h | Example UCUM Units |
62310-8 Galactosylceramidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14027-4 Galactosylceramidase
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46.
Source: National Library of Medicine, MeSH 2006
Reference Information
Type | Source | Reference |
---|---|---|
Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactosylceramidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- GALC DBS-cCnc
- Display Name
- Galactosylceramidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Galactosylceramidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
62300-9 | Lysosomal storage disorders newborn screening panel |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Galactosilceramidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Galactosilceramidasa: |
et-EE | Estonian (Estonia) | Galaktosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Galactosylcéramidase: |
fr-FR | French (France) | Galactosylcéramidase: |
fr-BE | French (Belgium) | Galactosylcéramidase: |
it-IT | Italian (Italy) | Galattosilceramidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | galactosylceramidase: |
pt-BR | Portuguese (Brazil) | Galactocerebrosidase: |
ru-RU | Russian (Russian Federation) | Галактозилцерамидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Galaktozilseramidaz: |
zh-CN | Chinese (China) | 半乳糖苷神经酰胺酶: Synonyms: Beta-半乳糖脑苷沉积症; |
Example Units
Unit | Source |
---|---|
umol/L/h | Example UCUM Units |
55827-0 Acid alpha glucosidase [Enzymatic activity/volume] in DBS
Term Description
This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC
Part Descriptions
LP14013-4 Acid alpha glucosidase
Alpha (A) glucosidase is an enzyme found in tissue fibroblasts that is useful for delineatig the reason for muscle wasting and ruling out Pompe's disease.
Source: Regenstrief Institute
Reference Information
Type | Source | Reference |
---|---|---|
Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acid alpha glucosidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acid A-Glucosidase DBS-cCnc
- Display Name
- Acid alpha glucosidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Acid alpha glucosidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
62300-9 | Lysosomal storage disorders newborn screening panel |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Alpha-Glucosidase /BT |
es-ES | Spanish (Spain) | Alfa glucoxidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Alfa glucosidasa ácida: |
et-EE | Estonian (Estonia) | Alfaglükosidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Alpha-glucosidase acide: |
fr-FR | French (France) | Alpha glucosidase acide: |
fr-BE | French (Belgium) | Alpha glucosidase acide: |
it-IT | Italian (Italy) | Acido alfa glucosidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | zure alfa-glucosidase: |
pl-PL | Polish (Poland) | Kwaśna alfa-glukozydaza: Synonyms: Glukozydaza Kwaśna alfa-glukozydaza |
pt-BR | Portuguese (Brazil) | Alfa glucosidase: Synonyms: Glucoinvertase; |
ru-RU | Russian (Russian Federation) | Кислая альфа глюкозидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Asit alfa glukozidaz: |
zh-CN | Chinese (China) | Alpha 葡糖苷酶: Synonyms: Alpha 葡萄糖苷酶; |
Example Units
Unit | Source |
---|---|
umol/L/h | Example UCUM Units |
62316-5 Acid sphingomyelinase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14035-7 Acid sphingomyelinase
Sphingomyelin phosphodiesterase or simply Sphingomyelinase (SMase) is a hydrolase enzyme that is involved in sphingolipid metabolism reactions. SMase is a member of the DNase I superfamily of enzymes and is responsible for breaking sphingomyelin (SM) down into phosphocholine and ceramide. The activation of SMase has been suggested as a major route for the production of ceramide in response to cellular stresses.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Reference Information
Type | Source | Reference |
---|---|---|
Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acid sphingomyelinase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acid sphingomyelinase DBS-cCnc
- Display Name
- Acid sphingomyelinase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Acid sphingomyelinase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
62300-9 | Lysosomal storage disorders newborn screening panel |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Sphingomyelinase /BT |
es-ES | Spanish (Spain) | Esfingomielinasa ácida: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Esfingomielinasa ácida: |
et-EE | Estonian (Estonia) | Sfingomüelinaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Acide sphingomyélinase: |
fr-FR | French (France) | Sphingomyélinase acide: |
fr-BE | French (Belgium) | Sphingomyélinase acide: |
it-IT | Italian (Italy) | Sfingomielinasi acida: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | zure sfingomyelinase: |
pt-BR | Portuguese (Brazil) | Ácido esfingomielinase: |
ru-RU | Russian (Russian Federation) | Кислая сфингомиелиназа: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Asit sfingomiyelinaz: |
zh-CN | Chinese (China) | 神经磷脂酶: Synonyms: A 型和 B 型 Niemann-Pick 病; |
Example Units
Unit | Source |
---|---|
umol/L/h | Example UCUM Units |
55917-9 Glucosylceramidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP15604-9 Glucosylceramidase
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45.
Source: National Library of Medicine, MeSH 2006
Reference Information
Type | Source | Reference |
---|---|---|
Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucosylceramidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glucosylceramidase DBS-cCnc
- Display Name
- Glucosylceramidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Glucosylceramidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Change Reason
- Updated Component from "Acid beta glucosidase" per the recommended nomenclature [UniProt: P04062]
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
62300-9 | Lysosomal storage disorders newborn screening panel |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-DE | German (Germany) | Beta-Glucosidase: |
es-ES | Spanish (Spain) | Glucosilceramidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Glucosilceramidasa: |
et-EE | Estonian (Estonia) | Glükosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Glucosylcéramidase: |
fr-FR | French (France) | Glucosylcéramidase: |
fr-BE | French (Belgium) | Glucosylcéramidase: |
it-IT | Italian (Italy) | Glucosilceramidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | glucosylceramidase: |
pl-PL | Polish (Poland) | Ceramidaza glukozylowa: Synonyms: Ceramidaza glukozylowa |
pt-BR | Portuguese (Brazil) | Beta glucosidase: Synonyms: Glucoinvertase; |
ru-RU | Russian (Russian Federation) | Глюкозилцерамидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | Glukozilseramidaz: |
zh-CN | Chinese (China) | 葡糖神经酰胺酶: Synonyms: Beta 葡糖脑苷脂酶; |
Example Units
Unit | Source |
---|---|
umol/L/h | Example UCUM Units |