Details of Disease | DrugMAP

General Information of Disease (ID: DISNZOJ0)

Disease Name	Dimethylglycine dehydrogenase deficiency
Synonyms	DMGDHD; Dmgdh deficiency; dimethylglycine dehydrogenase activity disease; dimethylglycine dehydrogenase deficiency; DMGDH deficiency; disorder of dimethylglycine dehydrogenase activity; DMG dehydrogenase deficiency
Definition	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.
Disease Hierarchy	DISYZ4CU: Disorder of methylamine metabolism DISWD40R: Disease DISNZOJ0: Dimethylglycine dehydrogenase deficiency
Disease Identifiers	MONDO ID MONDO_0011610 MESH ID C565278 UMLS CUI C1853892 OMIM ID 605850 MedGen ID 343006 Orphanet ID 243343 SNOMED CT ID 719449007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DMGDH	OTPJEWQ8	Supportive	Autosomal recessive	[1]
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References

1	Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet. 2001 Apr;68(4):839-47. doi: 10.1086/319520. Epub 2001 Feb 28.