3-methylglutaconic aciduria type 7

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome | MGA7

A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations such as global developmental delay intellectual disability hypotonia movement disorder and seizures. Microcephaly cataract facial dysmorphism growth retardation endocrine abnormalities and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy or abnormalities of the basal ganglia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
3-methylglutaconic aciduria type 7?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.