94489-2
Lysosomal storage disorders panel - Leukocytes
Active
24051-5 Acid alpha glucosidase [Enzymatic activity/mass] in Leukocytes
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
Fully-Specified Name
- Component
- Acid alpha glucosidase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acid A-Glucosidase WBC-cCnt
- Display Name
- Acid alpha glucosidase (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Acid alpha glucosidase, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0o
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 8906
Member of these Panels
LOINC | Long Common Name |
---|---|
94489-2 | Lysosomal storage disorders panel - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Alpha-Glucosidase /Leukozyten |
es-AR | Spanish (Argentina) | alfa glucosidasa: |
es-ES | Spanish (Spain) | Alfa glucoxidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Alfa glucosidasa ácida: |
et-EE | Estonian (Estonia) | Alfaglükosidaas: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
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 Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
ko-KR | Korean (Korea, Republic Of) | 알파 글로코시다아제: |
nl-NL | Dutch (Netherlands) | zure alfa-glucosidase: Synonyms: witte bloedcellen |
pl-PL | Polish (Poland) | Kwaśna alfa-glukozydaza: Synonyms: Glukozydaza Kwaśna alfa-glukozydaza |
pt-BR | Portuguese (Brazil) | Alfa glicosidase: Synonyms: Glucoinvertase; |
ru-RU | Russian (Russian Federation) | Кислая альфа глюкозидаза: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Asit alfa glukozidaz: Synonyms: WBC |
uk-UA | Ukrainian (Ukraine) | Кисла альфа глюкозидаза: Synonyms: Acd; |
zh-CN | Chinese (China) | Alpha 葡糖苷酶: Synonyms: Alpha 葡萄糖苷酶; |
Example Units
Unit | Source |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
nmol/mg prot/H | REGENSTRIEF |
94488-4 Acid alpha glucosidase [Enzymatic activity/mass] in Leukocytes by Confirmatory method
Term Description
Confirmatory testing methods may vary between laboratories and include Liquid Chromatography-Tandem Mass Spectrometry.
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
Fully-Specified Name
- Component
- Acid alpha glucosidase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
- Confirm
Additional Names
- Short Name
- Acid A-Glucosidase WBC Cfm-cCnt
- Display Name
- Acid alpha glucosidase Confirm (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Acid alpha glucosidase, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
94489-2 | Lysosomal storage disorders panel - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Alfa glucoxidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Alfa glucosidasa ácida: |
et-EE | Estonian (Estonia) | Alfaglükosidaas: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
fr-BE | French (Belgium) | Alpha glucosidase acide: |
fr-FR | French (France) | Alpha glucosidase acide: |
fr-CA | French (Canada) | Alpha-glucosidase acide: |
it-IT | Italian (Italy) | Acido alfa glucosidasi: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | zure alfa-glucosidase: Synonyms: witte bloedcellen |
pl-PL | Polish (Poland) | Kwaśna alfa-glukozydaza: Synonyms: Glukozydaza Kwaśna alfa-glukozydaza |
ru-RU | Russian (Russian Federation) | Кислая альфа глюкозидаза: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Asit alfa glukozidaz: Synonyms: Teyid WBC |
zh-CN | Chinese (China) | Alpha 葡糖苷酶: Synonyms: Alpha 葡萄糖苷酶; |
Example Units
Unit | Source |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
24101-8 Acid sphingomyelinase [Enzymatic activity/mass] in Leukocytes
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
Fully-Specified Name
- Component
- Acid sphingomyelinase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acid sphingomyelinase WBC-cCnt
- Display Name
- Acid sphingomyelinase (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Acid sphingomyelinase, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0o
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
94489-2 | Lysosomal storage disorders panel - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | esfingomielinasa: |
es-ES | Spanish (Spain) | Esfingomielinasa ácida: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Esfingomielinasa ácida: |
et-EE | Estonian (Estonia) | Sfingomüelinaas: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
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 Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
ko-KR | Korean (Korea, Republic Of) | 스핑고미엘린분해효소: |
nl-NL | Dutch (Netherlands) | zure sfingomyelinase: Synonyms: witte bloedcellen |
pt-BR | Portuguese (Brazil) | Esfingomielinase: Synonyms: Niemann-Pick A and B variants; |
ru-RU | Russian (Russian Federation) | Кислая сфингомиелиназа: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Asit sfingomiyelinaz: Synonyms: WBC |
zh-CN | Chinese (China) | 神经磷脂酶: Synonyms: A 型和 B 型 Niemann-Pick 病; |
Example Units
Unit | Source |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
nmol/hr/mg of protein | eCHN |
24049-9 Alpha galactosidase A [Enzymatic activity/mass] in Leukocytes
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
Fully-Specified Name
- Component
- Alpha galactosidase A
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-Galactosidase A WBC-cCnt
- Display Name
- Alpha galactosidase A (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Alpha Galactosidase A, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0o
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 8398
Member of these Panels
LOINC | Long Common Name |
---|---|
94489-2 | Lysosomal storage disorders panel - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Alpha-Galaktosidase /Leukozyten |
es-AR | Spanish (Argentina) | alfa galactosidasa: |
es-ES | Spanish (Spain) | Alfa galactosidasa A: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Alfa galactosidasa A: |
et-EE | Estonian (Estonia) | Alfagalaktosidaas: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
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 Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
ko-KR | Korean (Korea, Republic Of) | 알파 갈락토시다아제: |
nl-NL | Dutch (Netherlands) | alfa-galactosidase A: Synonyms: witte bloedcellen |
pt-BR | Portuguese (Brazil) | Alfa galactosidase: Synonyms: ; |
ru-RU | Russian (Russian Federation) | Альфа галактозидаза A: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Alfa galaktozidaz A: Synonyms: WBC |
uk-UA | Ukrainian (Ukraine) | Альфа галактозидаза А: Synonyms: A-Galactosidase 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 |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
nmol/mg prot/H | REGENSTRIEF |
24057-2 Alpha-L-iduronidase [Enzymatic activity/mass] in Leukocytes
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
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-L-Iduronidase WBC-cCnt
- Display Name
- Alpha-L-iduronidase (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Alpha-L-iduronidase, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0o
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
94489-2 | Lysosomal storage disorders panel - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Alpha-Iduronidase /Leukozyten |
es-AR | Spanish (Argentina) | alfa-L-iduronidasa: |
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 Leukotsüüdid |
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 Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
ko-KR | Korean (Korea, Republic Of) | 알파-L-이두로니다아제: |
nl-NL | Dutch (Netherlands) | alfa-L-iduronidase: Synonyms: witte bloedcellen |
pt-BR | Portuguese (Brazil) | Alfa-L-iduronidase: Synonyms: ; |
ru-RU | Russian (Russian Federation) | Альфа-L-идуронидазы: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Alfa-L-iduronidaz: Synonyms: WBC |
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 |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
nmol/hr/mg of protein | eCHN |
24084-6 Galactosylceramidase [Enzymatic activity/mass] in Leukocytes
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
Fully-Specified Name
- Component
- Galactosylceramidase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- GALC WBC-cCnt
- Display Name
- Galactosylceramidase (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Galactosylceramidase, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0o
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17476
Member of these Panels
LOINC | Long Common Name |
---|---|
94489-2 | Lysosomal storage disorders panel - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Galactocerebrosidase /Leukozyten |
es-AR | Spanish (Argentina) | galactosilceramidasa: |
es-ES | Spanish (Spain) | Galactosilceramidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Galactosilceramidasa: |
et-EE | Estonian (Estonia) | Galaktosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
fr-CA | French (Canada) | Galactosylcéramidase: |
fr-FR | French (France) | Galactosylcéramidase: |
fr-BE | French (Belgium) | Galactosylcéramidase: |
it-IT | Italian (Italy) | Galattosilceramidasi: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
ko-KR | Korean (Korea, Republic Of) | 갈락토실세라미다아제: |
nl-NL | Dutch (Netherlands) | galactosylceramidase: Synonyms: witte bloedcellen |
pt-BR | Portuguese (Brazil) | Galactosilceramidase: Synonyms: ; |
ru-RU | Russian (Russian Federation) | Галактозилцерамидаза: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Galaktozilseramidaz: Synonyms: WBC |
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 |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
nmol/hr/mg of protein | eCHN |
94487-6 Galactosylceramidase [Enzymatic activity/mass] in Leukocytes by Confirmatory method
Term Description
Confirmatory testing methods may vary between laboratories and include Liquid Chromatography-Tandem Mass Spectrometry.
Source: Regenstrief LOINC
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
Fully-Specified Name
- Component
- Galactosylceramidase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
- Confirm
Additional Names
- Short Name
- GALC WBC Cfm-cCnt
- Display Name
- Galactosylceramidase Confirm (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Galactosylceramidase, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
94489-2 | Lysosomal storage disorders panel - Leukocytes |
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 Leukotsüüdid |
fr-FR | French (France) | Galactosylcéramidase: |
fr-BE | French (Belgium) | Galactosylcéramidase: |
fr-CA | French (Canada) | Galactosylcéramidase: |
it-IT | Italian (Italy) | Galattosilceramidasi: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | galactosylceramidase: Synonyms: witte bloedcellen |
ru-RU | Russian (Russian Federation) | Галактозилцерамидаза: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Galaktozilseramidaz: Synonyms: Teyid WBC |
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 |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
32540-7 Glucosylceramidase [Enzymatic activity/mass] in Leukocytes
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
Fully-Specified Name
- Component
- Glucosylceramidase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glucosylceramidase WBC-cCnt
- Display Name
- Glucosylceramidase (WBC) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Glucosylceramidase, White blood cells
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.08
- Last Updated
- Version 2.73
- Change Reason
- Updated Component from "Acid beta glucosidase" per the recommended nomenclature [UniProt: P04062]
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 13039
Member of these Panels
LOINC | Long Common Name |
---|---|
94489-2 | Lysosomal storage disorders panel - Leukocytes |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-DE | German (Germany) | Beta-Glucosidase: Synonyms: WBC |
es-AR | Spanish (Argentina) | beta glucosidasa: |
es-ES | Spanish (Spain) | Glucosilceramidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Glucosilceramidasa: |
et-EE | Estonian (Estonia) | Glükosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
fr-CA | French (Canada) | Glucosylcéramidase: |
fr-FR | French (France) | Glucosylcéramidase: |
fr-BE | French (Belgium) | Glucosylcéramidase: |
it-IT | Italian (Italy) | Glucosilceramidasi: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
ko-KR | Korean (Korea, Republic Of) | 베타 글루코시다아제: |
nl-NL | Dutch (Netherlands) | glucosylceramidase: Synonyms: witte bloedcellen |
pl-PL | Polish (Poland) | Ceramidaza glukozylowa: Synonyms: Ceramidaza glukozylowa |
pt-BR | Portuguese (Brazil) | Beta glicosidase: Synonyms: Glucoinvertase; |
ru-RU | Russian (Russian Federation) | Глюкозилцерамидаза: Synonyms: Каталитическое содержание Количественный Точка во времени; |
tr-TR | Turkish (Turkey) | Glukozilseramidaz: Synonyms: WBC |
zh-CN | Chinese (China) | 葡糖神经酰胺酶: Synonyms: Beta 葡糖脑苷脂酶; |
Example Units
Unit | Source |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
nmol/mg prot/H | REGENSTRIEF |