Hyperglycinemia, Lactic Acidosis, and Seizures (HGCLAS)

Hyperglycinemia, Lactic Acidosis, and Seizures, also known as pyruvate dehydrogenase lipoic acid synthetase deficiency, is related to lipoic acid synthetase deficiency and dihydrolipoamide dehydrogenase deficiency, and has symptoms including apnea, myoclonus and seizures. An important gene associated with Hyperglycinemia, Lactic Acidosis, and Seizures is LIAS (Lipoic Acid Synthetase). Related phenotypes are leukodystrophy and cerebral atrophy