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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614462
http://purl.bioontology.org/ontology/OMIM/614462
|
|---|---|
| Preferred Name | HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
| Synonyms |
HGCLAS
PDHLD
PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HGCLAS
PDHLD
PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
|
|---|---|
| prefLabel | HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
| Gene Symbol |
PDHLD
LIAS
HGCLAS
|
| Scope Statement | Four patients from 3 families have been reported (last curated March 2016) [MISCELLANEOUS]
Caused by mutation in the lipoic acid synthase gene (LIAS, 607031.0001) [MOLECULAR BASIS]
Metabolic decompensation, episodic [MISCELLANEOUS]
Onset in first days of life [MISCELLANEOUS]
Severe disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4p14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 614462
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280887
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |