[MIM 610 198]

(MGCA type 5, DCMA (Dilated CardioMyopathy with Ataxia) syndrome)

Very rare, only described in the Hutterite Dariusleut community, an endogamous population of the Great Plains regions of Canada and the northern USA. Form of 3-methylglutaconic aciduria due to a mutation of the DNAJC19 gene (3q16.33). 

Characterized by:

-         a dilated cardiomyopathy sometimes associated with a long QT

-         cerebellar ataxia

-         growth retardation

-         testicular dysgenesis

 Anesthetic implications: 

preoperative echocardiography; management of a mitochondrial cytopathy and of a long QT; see mitochondrial cytopathies 

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: February 2025