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mitochondrial DNA depletion syndrome 4A (Alpers type) MTDPS4A

An autosomal recessive hepatocerebral syndrome. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis.

OTHER NAME(S): Alpers syndrome
Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
ALPERS-HUTTENLOCHER SYNDROME
NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE

ABREVIATION(S):
MTDPS4A
PNDC

TYPE: neurodegenerative disease

Related patway(s): DNA replication

DNAtraffic protein(s) related to disease: POLγ (POLG)

OMIM: 203700

Last modification date: July 28, 2011