Glycine N-methyltransferase deficiency
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypermethioninemia
Hypermethioninemia
- MedGen UID: 887708
- Concept ID: C4048705
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- ACMG ACT, 2021American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Methionine +/- Elevated Homocysteine, Homocystinuria (Cystathionine beta-synthase deficiency), 2021
- ACMG Algorithm, 2021American College of Medical Genetics and Genomics, Algorithm, Elevated Methionine +/- Elevated Homocysteine, 2021
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