Alpers-Huttenlocher syndrome

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 compo

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.

Signs and symptoms

• Ataxia
• Cerebral visual impairment
• Cerebral atrophy
• Bile duct proliferation
• Acute hepatic failure
• Ascites
• Micronodular cirrhosis
• Hepatic failure
• Cerebellar atrophy
• Gliosis

Also known as: Alper's syndrome; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers' disease or gray-matter degeneration