Orphanet: Dimethylglycine dehydrogenase deficiency

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Dimethylglycine dehydrogenase deficiency

Disease 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.

ORPHA:243343

Classification level: Disorder

Synonym(s):
- DMG dehydrogenase deficiency
- DMGDH deficiency
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
ICD-10: E72.5
OMIM: 605850
UMLS: C1853892
MeSH: -
GARD: -
MedDRA: -

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Dimethylglycine dehydrogenase deficiency

ORPHA:243343

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