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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-11-2020
Symbol PNDC
Location 15q26.1
Name neuronal degeneration of childhood with liver disease, progressive
Other name(s)
  • Alpers-Huttenlocher syndrome
  • Alpers progressive infantile poliodystrophy
  • Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
  • Corresponding gene POLG
    Main clinical features
  • developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults
  • characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, feeding difficulties, variable forms of infantile epilepsy or psychomotor developmental delay and hypotonia
  • deficiencies of respiratory chain enzyme complexes I and III, in combination with complex II, complex IV
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    digestive tract/liver and annex
    Type disease
    Gene product
    Name polymerase (DNA directed), gamma
    Gene mutationChromosome rearrangementEffectComments
    unknown   truncated protein homozygous mutation in exon 17 that led to a Glu873Stop mutation just upstream of the polymerase domain