Hyperglycinemia, lactic acidosis, and seizures

Preferred Label : Hyperglycinemia, lactic acidosis, and seizures;

Symbol : HGCLAS;

CISMeF acronym : HGCLAS; PDHLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PDHLD; Pyruvate dehydrogenase lipoic acid synthetase deficiency;

Description : Pyruvate dehydrogenase lipoic acid synthetase deficiency is an autosomal recessive disorder of mitochondrial metabolism characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect (Mayr et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lipoic acid synthase gene (LIAS, 607031.0001);

Laboratory abnormalities : Increased urinary and serum glycine; Increased serum lactate; Increased urinary glutaric acid; Decreased activity of the glycine cleavage enzyme system; Decreased activity of the pyruvate dehydrogenase (PDH) complex;

Prefixed ID : #614462;

Details

Origin ID

614462;

UMLS CUI

C3280887;

Automatic exact mappings (from CISMeF team)
- Lipoic acid synthetase deficiency [ORDO Disease]
Genes related to phenotype
- Lipoic acid synthase [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Lactic acidosis [HPO term]
- Leukodystrophy [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Myoclonus [HPO term]
- Profound global developmental delay [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Sleep disturbance [HPO term]
- Spastic tetraplegia [HPO term]
ORDO concept(s)
- Lipoic acid synthetase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients