LP201749-1
3-Methylglutaconyl-CoA hydratase
Active
Description
3-methylglutaconyl-CoA hydratase [UniProt: Q13825] catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA. Deficiency of 3-methylglutaconyl-CoA hydratase leads to elevated levels of 3-methylglutaconic acid, resulting in metabolic acidosis and aciduria. Beginning in infancy to early childhood, patients with 3-methylglutaconyl-CoA hydratase deficiency have symptoms of developmental delay, dystonia, and spastic quadriparesis. The deficiency is caused by mutations in the AUH gene and is inherited in an autosomal recessive pattern.[OMIM: 250950] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- 3-Methylglutaconyl-CoA hydratase
- Part Display Name
- 3-Methylglutaconyl-CoA hydratase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-10-27
- Construct for LOINC Short Name
- 3-MGC-CoA
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 3-甲基戊烯二酰辅酶 A 水合酶 Synonyms: 3-甲基戊烯二酰-CoA 水合酶; |
| es-ES | Spanish (Spain) | 3-Metilglutaconil-CoA hidratasa |
| it-IT | Italian (Italy) | 3-metilglutaconil-CoA idratasi |
| nl-NL | Dutch (Netherlands) | 3-methylglutaconyl-CoA-hydratase |
| fr-FR | French (France) | 3-méthylglutaconyl CoA hydratase |
| pl-PL | Polish (Poland) | Hydrataza 3-metyloglutakonylo-CoA |
| el-GR | Greek (Greece) | 3-μεθυλγλουτακονυλ-CoA υδρατάση Synonyms: 3-μεθυλγλουτακονυλ-CoA υδρατάση |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://