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Metadata
ID DOID:0081446
Name dimethylglycine dehydrogenase deficiency
Definition An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14.
https://pubmed.ncbi.nlm.nih.gov/11231903/, https://pubmed.ncbi.nlm.nih.gov/10102904/
Xrefs

MIM:605850

ORDO:243343

Subsets

DO_rare_slim

Synonyms

DMG dehydrogenase deficiency [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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