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GENATLAS PHENOTYPE
last update : 22-03-2017
Symbol HMGCLD
Location 1p36.11
Name HMG-CoA lyase deficiency
Other name(s) hydroxymethyl aciduria
Corresponding gene HMGCL
Main clinical features
  • first symptoms in the early days, recurrent non ketotic hypoglycemia with acidosis, hyperammonemia and hydroxymethylglutaricaciduria, with a Reye-like syndrome, acute pancreatitis
  • metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, which include 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids
  • 3-methylglutarylcarnitine in the urine
  • Genetic determination autosomal recessive
    Prevalence <1/100000
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name 3-hydroxy-3-methylglutaryl-CoA lyase, homodimeric mitochondrial matrix enzyme (HMGCL)
    Remark(s)