Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, cataracts, seizures, and recurrent infections.

Acronym

MEGCANN

Synonyms

3-methylglutaconic aciduria 7
3-methylglutaconic aciduria, type VII
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
MGCA7

Keywords

Epilepsy
Cataract