100765-7
Homocysteine and methylmalonate and methylcitrate panel - DBS
Active
54301-7 Homocysteine [Moles/volume] in DBS
Part Descriptions
LP14977-0 Homocysteine
Homocysteine, an amino acid with the formula HSCH2CH2CH(NH2)CO2H, is a homologue of the amino acid cysteine, differing from it only by an additional methylene (-CH2-) group. It is biosynthesized from methionine by the removal of its terminal Cε methyl group. Homocysteine can be recycled into methionine or converted into cysteine with B-vitamins.
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Source: Wikipedia, Homocystine
Fully-Specified Name
- Component
- Homocysteine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hcys DBS-sCnc
- Display Name
- Homocysteine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Homocysteine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 100765-7 | Homocysteine and methylmalonate and methylcitrate panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Homocisteína: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Homocisteína: |
| et-EE | Estonian (Estonia) | Homotsüsteiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Homocystéine: |
| fr-BE | French (Belgium) | Homocystéine: |
| fr-FR | French (France) | Homocystéine: |
| it-IT | Italian (Italy) | Omocisteina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | homocysteïne: |
| pt-BR | Portuguese (Brazil) | Homocisteina: Synonyms: Hcys; |
| ru-RU | Russian (Russian Federation) | Гомоцистеин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Homosistein: |
| zh-CN | Chinese (China) | 同型半胱氨酸: Synonyms: HCY; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
82385-6 Methylmalonate [Moles/volume] in DBS
Part Descriptions
LP15735-1 Methylmalonate
Methylmalonate (methylmalonic acid) is measured as a second-tier assay when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screening. Methylmalonic acidemia (MMA) and propionic acidemia (PA) are defects of propionate metabolism caused by deficiencies in methylmalonyl-CoA mutase and propionyl-CoA carboxylase, respectively. The clinical phenotype of both conditions includes vomiting, hypotonia, lethargy, apnea, hypothermia, and coma. The biochemical phenotype for MMA includes elevated methylmalonic acid, propionyl carnitine and methylcitric acid, while patients with PA have elevated propionyl carnitine and methylcitric acid with normal methylmalonic acid concentrations as the enzymatic defect is upstream of methylmalonic-CoA mutase.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Methylmalonate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Methylmalonate DBS-sCnc
- Display Name
- Methylmalonate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Methylmalonate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 100765-7 | Homocysteine and methylmalonate and methylcitrate panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Malonato de metilo: |
| es-ES | Spanish (Spain) | Metilmalonato: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Metüülmalonaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Méthylmalonate: |
| fr-BE | French (Belgium) | Méthylmalonate: |
| fr-CA | French (Canada) | Méthylmalonate: |
| it-IT | Italian (Italy) | Metilmalonato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylmalonaat: |
| ru-RU | Russian (Russian Federation) | Метилмалонат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metilmalonat: |
| zh-CN | Chinese (China) | 甲基丙二酸: Synonyms: MMA; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |
82386-4 2-Methylcitrate [Moles/volume] in DBS
Part Descriptions
LP18136-9 2-Methylcitrate
Elevated methylcitric acid levels are indicative of an underlying metabolic disorder such as methylmalonic acidemia (MMA) and propionic acidemia (PA).
Source: Regenstrief LOINC
LP18136-9 2-Methylcitrate
2-Methylcitrate (methylcitric acid (MCA)) is measured as a second-tier assay when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen. Methylmalonic acidemia (MMA) and propionic acidemia (PA) are defects of propionate metabolism caused by deficiencies in methylmalonyl-CoA mutase and propionyl-CoA carboxylase, respectively. The clinical phenotype of both conditions includes vomiting, hypotonia, lethargy, apnea, hypothermia, and coma in the newborn period, and both MMA and PA are associated with elevated MCA and propionyl carnitine concentrations. MMA and PA can be distinguished based on methylmalonic acid concentration, which is elevated in MMA and normal in PA.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- 2-Methylcitrate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 2Me-citrate DBS-sCnc
- Display Name
- 2-Methylcitrate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 2-Methylcitrate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 100765-7 | Homocysteine and methylmalonate and methylcitrate panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | 2-metilcitrato: |
| es-ES | Spanish (Spain) | 2-Metilcitrato: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | 2-metüültsitraat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-BE | French (Belgium) | 2-méthylcitrate: |
| fr-FR | French (France) | 2-méthylcitrate: |
| fr-CA | French (Canada) | 2-méthylcitrate: |
| it-IT | Italian (Italy) | 2-Metilcitrato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 2-methylcitraat: |
| ru-RU | Russian (Russian Federation) | 2-Метилцитрат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 2-Metilsitrat: |
| zh-CN | Chinese (China) | 2-甲基柠檬酸: Synonyms: 2Me-柠檬酸; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |