DMGDHD
MCID: DMT001
MIFTS: 27
|
Dimethylglycine Dehydrogenase Deficiency (DMGDHD)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases
|
|
MalaCards integrated aliases for Dimethylglycine Dehydrogenase Deficiency:
Characteristics:Orphanet epidemiological data:58
dimethylglycine dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Muscle diseases
ICD10:
33
Orphanet: 58
![]() |
KEGG :
36
Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix enzyme involved in the metabolism of choline.
MalaCards based summary : Dimethylglycine Dehydrogenase Deficiency, also known as dmgdh deficiency, is related to sarcosinemia and glycine n-methyltransferase deficiency, and has symptoms including fishy body odor An important gene associated with Dimethylglycine Dehydrogenase Deficiency is DMGDH (Dimethylglycine Dehydrogenase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Glycerophospholipid biosynthesis. Related phenotypes are elevated serum creatine kinase and abnormal enzyme/coenzyme activity UniProtKB/Swiss-Prot : 73 DMGDH deficiency: Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine.
More information from OMIM:
605850
|
Diseases related to Dimethylglycine Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
|
Human phenotypes related to Dimethylglycine Dehydrogenase Deficiency:58 31 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:605850 (Updated 05-Mar-2021)UMLS symptoms related to Dimethylglycine Dehydrogenase Deficiency:fishy body odor |
|
Articles related to Dimethylglycine Dehydrogenase Deficiency:
|
ClinVar genetic disease variations for Dimethylglycine Dehydrogenase Deficiency:6
UniProtKB/Swiss-Prot genetic disease variations for Dimethylglycine Dehydrogenase Deficiency:73
|
Search
GEO
for disease gene expression data for Dimethylglycine Dehydrogenase Deficiency.
|
Pathways related to Dimethylglycine Dehydrogenase Deficiency according to KEGG:36
|
Cellular components related to Dimethylglycine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Dimethylglycine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Dimethylglycine Dehydrogenase Deficiency according to GeneCards Suite gene sharing:
|
|