Hyperglycinemia, Lactic Acidosis, and Seizures, Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency

Pyruvate dehydrogenase lipoic acid synthetase deficiency is a mitochondrial disorder presenting with lactic acidosis, elevated glycine, seizures, and severe developmental impairment. Affected infants may have structural brain abnormalities and early mortality. Genetic testing confirms the diagnosis and informs prognostic counseling and supportive care.