Preferred Label : 3-methylglutaconic aciduria type 4;
ICD-11 definition : 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.;
ICD-11 synonym : MGA4 - [3-methylglutaconic aciduria type 4];
ICD-11 acronym : MGA4;
Origin ID : 185382411;
Currated CISMeF NLP mapping
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.
