/mitochondrial DNA depletion syndrome 4a

mitochondrial DNA depletion syndrome 4a

Rare Disease

MONDO:0008758

Also Known As

AHDAHSAlper syndromeAlper's diseaseAlper's syndromeAlpers DiseaseAlpers Huttenlocher diseaseAlpers Huttenlocher syndromeAlpers diseaseAlpers progressive infantile poliodystrophyAlpers progressive sclerosing poliodystrophyAlpers syndromeAlpers' disease or gray-matter degenerationAlpers-HuttenlocherAlpers-Huttenlocher syndromemitochondrial DNA depletion syndrome 4Amitochondrial DNA depletion syndrome type 4aprogressive neuronal degeneration of childhood with liver diseaseprogressive sclerosing poliodystrophyAlpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosisAlpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosisMTDPS4APNDCPoliodystrophia cerebri progressivadiffuse cerebral degeneration in infancyinfantile poliodystrophymitochondrial DNA depletion syndrome 4A (Alpers type)neuronal Degeneration of childhood with liver disease, progressiveprogressive cerebral poliodystrophy

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.