Term Name:	Alpers-Huttenlocher syndrome
Synonyms:	Alpers disease, Alpers progressive infantile poliodystrophy, Alpers syndrome, Diffuse Cerebral Sclerosis of Schilder, mitochondrial DNA depletion syndrome 4a, Polg disease
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 (POLG) on chromosome 15q26.
Ontology:	Human Disease [DOID:0080122]   ( DOID:0080122 )