Alpers-Huttenlocher syndrome (DOID:0080122)
Alliance: disease page
Synonyms: Alper's syndrome; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers' disease or gray-matter degeneration; Diffuse Cerebral Sclerosis of Schilder; mitochondrial DNA depletion syndrome 4a; progressive sclerosing poliodystrophy
Alt IDs: OMIM:203700, ICD10CM:G31.81, MESH:D002549, NCI:C35257, ORDO:726, UMLS_CUI:C0205710
Definition: A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.