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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.




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




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