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GENATLAS PHENOTYPE
last update : 31-05-2016
Symbol MHBD
Location Xp11.22
Name hydroxyacyl-CoA dehydrogenase, type II, deficiency
Other name(s)
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  • MHBD deficiency
    • Corresponding gene HSD17B10
    Main clinical features
  • inborn error in the metabolism of isoleucine, with loss of mental and motor skills, in any cases lactic acidosis, spastic diplegia, periventricular leukomalacia, progressing to a profound developmental regression, choreoathetosis, near blindness, and epilepsy
  • patient responded to isoleucine restriction
    • Genetic determination sex linked
    Function/system disorder metabolism/aminoacids
    neurology
    Type disease
    Gene product
    Name 2-methyl-3-hydroxybutyryl-CoA dehydrogenase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function R130C
    Remark(s)