Dimethylglycine dehydrogenase deficiency
- Synonyms
- DMGDH DEFICIENCY
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (10 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating N,N-dimethylglycine concentration
Elevated circulating N,N-dimethylglycine concentration
- MedGen UID: 1671019
- Concept ID: C4732768
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating N,N-dimethylglycine concentration
- Abnormality of the genitourinary system
- Elevated urinary N,N-dimethylglycine level
Elevated urinary N,N-dimethylglycine level
- MedGen UID: 1671106
- Concept ID: C4732769
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urinary N,N-dimethylglycine level
- Abnormality of the musculoskeletal system
- Increased muscle fatiguability
Increased muscle fatiguability
- MedGen UID: 892934
- Concept ID: C4025573
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased muscle fatiguability
- Constitutional symptom
- Fish odor
Fish odor
- MedGen UID: 1387060
- Concept ID: C4477064
- Finding: Sign or Symptom
Constitutional symptom
- Fish odor
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.