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

Keywords

Epilepsy
Cataract

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.