[MIM 250 951]

(AGM type 4)

Heterogeneous group of patients having an excessive elimination of 3-methyl-glutaconic in the urine but whose reported symptoms do not correspond to the types 1, 2, or 3.

First symptoms during the 1st year of life:

- hypotonia, psychomotor retardation

- epilepsy

- progressive spasticity

- cardiomyopathy

- liver disorders with lactic acidosis

- hypoglycemia, thrombocytopenia

In some cases, a mitochondrial respiratory chain dysfunction has been identified

 Anesthetic implications: 

go to  mitochondrial cytopathies

References:

Updated: December 2019