3-methylglutaconic aciduria type 7

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3-methylglutaconic aciduria type 7

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 October 2023.

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3-methylglutaconic aciduria type 7?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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