Catalog

3-methylglutaconic aciduria type 4

No MMS code

Link to WHO Definition

3-methylglutaconic aciduria type 4 – http://id.who.int/icd/entity/185382411

3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). Patients usually present during the first year of life with neurological findings including psychomotor retardation, hypotonia, developmental delay, seizures and progressive spasticity, together with severe failure to thrive.