Preferred Label : Glycine N-methyltransferase deficiency;
ICD-11 definition : Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive
glycine metabolism disorder characterized clinically in the single reported case to
date by muscle fatigue and a fish-like odor.;
ICD-11 synonym : GNMT - [Glycine N-methyltransferase] deficiency; GNMT deficiency;
Origin ID : 16192453;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive
glycine metabolism disorder characterized clinically in the single reported case to
date by muscle fatigue and a fish-like odor.
