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GENATLAS PHENOTYPE
last update : 16-02-2013
Symbol HADHD
Location 4q23-q25
Name 3-hydroxyacyl-Coenzyme A dehydrogenase deficiency
Other name(s)
  • 3-@hydroxyacyl-CoA dehydrogenase deficiency
  • hypoglycemia, hyperinsulinemic, of infancy
  • SCHAD deficiency
    • Corresponding gene HADH
    Other symbol(s) SCHAD
    Main clinical features
  • ketosis and abnormal medium-chain 3-hydroxydicarboxylic aciduria
  • fulminant hepatic failure with early death, or juvenile-onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy ; biochemical analysis showed that HADH enzyme activity was markedly decreased in skeletal muscle cells
  • HADH deficiency causes hyperinsulinism by activation of GLUD1 via loss of inhibitory regulation of GLUD1 by HADH (PMID: 20670938))
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   truncated protein  
    Remark(s)