has material basis in germline mutation in LIAS lipoic acid synthetase deficiency https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency https://www.malacards.org/card/hyperglycinemia_lactic_acidosis_and_seizures https://www.malacards.org/card/lipoic_acid_synthetase_deficiency UMLS:C3280887 MONDO:0013762 GARD:0012678 HGCLAS Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. hyperglycinemia, lactic acidosis, and seizures OMIM:614462 Orphanet:401859 MEDGEN:482517 pyruvate dehydrogenase lipoic acid synthetase deficiency PDHLD inherited lipoic acid biosynthesis defect pyruvate dehydrogenase deficiency