Mitochondrial DNA depletion syndrome 4a
Mitochondrial DNA depletion syndrome 4a
Definition
A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
Also known as AHD, AHS, Alper syndrome, Alper's disease, Alper's syndrome, Alpers Disease, Alpers Huttenlocher disease, Alpers Huttenlocher syndrome, Alpers progressive infantile poliodystrophy, Alpers progressive sclerosing poliodystrophy, Alpers syndrome, Alpers-Huttenlocher, Alpers-Huttenlocher syndrome, mitochondrial DNA depletion syndrome 4A, mitochondrial DNA depletion syndrome type 4a, progressive neuronal degeneration of childhood with liver disease — per MONDO