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Disease - 3-methylglutaconic aciduria 9

Definition

An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria.

Acronym

MGCA9

Synonyms

3-methylglutaconic aciduria, type IX

Keywords

› Epilepsy
› Mental retardation

 
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