(hydroxy-Methylglutarylcoa lyase deficiency)

Mitochondrial cytopathy due to 3-hydroxy-3-methylglutarylCoa lyase deficiency affecting ketogenesis (production of acetoacetate) and the last step in the metabolism of leucine. Risk of hypocetotic hypoglycemia  with seizures. Symptoms usually appear within the first year of age. Sometimes associated with acute liver failure or Reye's syndrome. Risk of cardiomyopathy in case of late diagnosis

Treatment: avoid prolonged fasting, protein-poor diet, carnitine supplements (75 - 100 mg/kg/day).

 Anesthetic implications: 

-   Risk of hypoglycemia. 

References:

•        Pié J, López-Viñas E, Puisac B, Menao S, Pié A, Casale C, Ramos FJ, Hegardt FG, Gómez-Puertas P, Casals N. 
  Molecular genetics of HMG-CoA lyase deficiency. 
  Mol Genet Metab 2007; 92:198-209.

Updated December 2019