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GTR Home > Conditions/Phenotypes > Lipoic acid synthetase deficiency

Lipoic acid synthetase deficiency

Synonyms
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; Pyruvate dehydrogenase lipoic acid synthetase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is a severe autosomal recessive disorder characterized by onset of hypotonia and seizures associated with increased serum glycine and lactate in the first days of life. Affected individuals develop an encephalopathy or severely delayed psychomotor development, which may result in death in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including HGCLAS, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014). [from OMIM]

Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HGCLAS, HUSSY-01, LAS, LIP1, LS, PDHLD, LIAS
    Summary: lipoic acid synthetase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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