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GENATLAS PHENOTYPE
last update : 17-11-2010
Symbol ACADSBD
Location 10q26.13
Name 2-methylbutyryl-CoA dehydrogenase deficiency
Other name(s)
  • short/branched-chain acyl-CoA dehydrogenase deficiency
  • acyl CoA dehydrogenase short/branched chain deficiency
    • Corresponding gene ACADSB
    Other symbol(s) SBCADD, MBD
    Main clinical features
  • acute metabolic acidosis at 3 days of age after an uncomplicated pregnancy and delivery, and then exhibited chronic seizures, abnormal movements, and developmental delay
  • two alpha methylbutyryl glycinuria, with retarded motor development, seizures and psychomotor delay, generalized muscular atrophy, and strabismus, with presence of C5-carnitine in blood
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name acyl-coenzyme A dehydrogenase, short branched chain
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing     IVS3+3A>G mutation that causes exon skipping
    Remark(s)