dimethylglycine dehydrogenase deficiency
DMG dehydrogenase deficiency
exact
DMGDH deficiency
exact
DMGDHD
related
dimethylglycine dehydrogenase activity disease
exact
dimethylglycine dehydrogenase deficiency
exact
disorder of dimethylglycine dehydrogenase activity
exact
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. This is an n-of-1 use case where only one patient or family has been described with this disorder.
MONDO:0019239
inborn disorder of serine family metabolism
excluded_subClassOf
MONDO:0100477
disorder of methylamine metabolism
is_a
SPBP16F5.08c