Hyperglycinemia, lactic acidosis, and seizures - CISMeF
Hyperglycinemia, lactic acidosis, and seizuresOMIM Phenotype
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;