dimethylglycine dehydrogenase deficiency
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
DMG dehydrogenase deficiency
exact
DMGDH deficiency
exact
DMGDHD
related
dimethylglycine dehydrogenase activity disease
exact
dimethylglycine dehydrogenase deficiency
exact
disorder of dimethylglycine dehydrogenase activity
exact
SPBP16F5.08c