" /> Hyperglycinemia, lactic acidosis, and seizures - CISMeF





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;

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11/07/2025


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