Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 15-10-2013
Symbol MDDS4
Location 13q14.2
Name mitochondrial DNA depletion syndrome, encephalomyopathic form
Other name(s)
  • encephalomyopathy associated with mtDNA depletion
  • mitochondrial DNA depletion syndrome 5
    • Corresponding gene SUCLA2
    Other symbol(s) MTENC5, MTDPS5
    Main clinical features
  • marked muscle hypotonia, muscle atrophia, hyperkinesia, severe hearing impairment, post natal growth retardation
  • demyelinisation and central and cortical atrophy including atrophy of the basal ganglia, sometimes suggestive of Leigh syndrome
  • urine and plasma methylmalonic acid elevated
    • Genetic determination autosomal recessive
    Prevalence rare ; in the Faroe islands, 1 in 1700 due to a founder effect
    Function/system disorder neurology
    neuromuscular
    Type disease
    Gene product
    Name ATP-forming beta subunit of the Krebs enzyme succinyl-CoA ligase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing      
    insertion-deletion      
    Remark(s)