LP175628-9
Hydroxymethylglutaryl CoA lyase deficiency
Active
Description
Hydroxymethylglutaryl CoA lyase deficiency (HMG; also known as 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency and 3-Hydroxy-3-methylglutaric aciduria) is an inherited disorder in which the body is unable to process the amino acid leucine or make ketones properly. Within the first year of life, this condition causes episodes of vomiting, diarrhea, dehydration, lethargy, hypotonia, hypoglycemia, and metabolic acidosis. If untreated, this disorder can lead to breathing problems, convulsions, coma, and death. HMG deficiency is caused by mutations in the HMGCL gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Hydroxymethylglutaryl CoA lyase deficiency
- Part Display Name
- Hydroxymethylglutaryl CoA lyase deficiency
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-10-31
- Construct for LOINC Short Name
- HMG-CoA Lyase deficiency
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 羟甲基戊二酰辅酶 A 裂合酶缺陷 Synonyms: 羟甲基戊二酰 CoA 裂合酶缺陷 |
| es-ES | Spanish (Spain) | Deficiencia de hidroximetilglutaril CoA liasa |
| it-IT | Italian (Italy) | Idrossimetilglutaril-CoA liasi, deficit Synonyms: Deficit di Idrossimetilglutaril-CoA liasi |
| tr-TR | Turkish (Turkey) | Hdroksimetilglutaril KoA lyaz yetmezliği |
| ru-RU | Russian (Russian Federation) | Гидроксиметилглутарил КоА лиаза недостаточность |
| nl-NL | Dutch (Netherlands) | hydroxymethylglutaryl-CoA-lyasedeficiëntie Synonyms: hydroxymethylglutaryl CoA lyase deficientie |
| fr-FR | French (France) | Hydroxyméthylglutaryl CoA lyase carence |
| pl-PL | Polish (Poland) | Niedobór liazy 3-hydroksy-3-metyloglutarylo-CoA Synonyms: Niedobór HMGCL; |
| el-GR | Greek (Greece) | Ανεπάρκεια υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάσης Synonyms: Ανεπάρκεια υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάσης |
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://