[MIM 610 198]

(AGM type 5, DCMA syndrome)

Very rare. Form of 3-methylglutaconic aciduria due to a mutation of the DNAJC19 gene (3q16.33). 

Characterized by:

- a dilated cardiomyopathy

- cerebellar ataxia

- growth retardation

- testicular dysgenesis

 Anesthetic implications: 

go to mitochondrial cytopathies ; preoperative echocardiography

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