Dimethylglycine dehydrogenase deficiency
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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.
Synonyms: DMG dehydrogenase deficiency DMGDH deficiency
This is just here as a test because I lose it
Term information
database cross reference
- OMIM:605850 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E72.5 (Attributed (The ICD10 code is attributed by Orphanet))
- UMLS:C1853892 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E72.5 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some <1 / 1 000 000
- has_inheritance some autosomal recessive
- has_age_of_onset some childhood
- part_of some Disorder of serine or glycine metabolism
- present_in some Worldwide and has_cases/families_value value 1.0