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 May 2026
Newly diagnosed with
3-methylglutaconic aciduria type 7?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
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