Sarcosine dehydrogenase deficiency

Synonyms: Hypersarcosinemia; SAR deficiency; SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY; SARD DEFICIENCY; Sarcosin dehydrogenase complex, deficiency of; Sarcosinemia

Summary

Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase (EC 1.5.99.2) and converted to glycine by sarcosine dehydrogenase (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001). [from OMIM]

Available tests

6 tests are in the database for this condition.

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Clinical tests (6 available)

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Genes reported to contribute to the condition.

SARDH
11 tests
Also known as: BPR-2, DMGDHL1, SAR, SARD, SDH, SARDH
Summary: sarcosine dehydrogenase

Imported from Human Phenotype Ontology (HPO)

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Abnormality of metabolism/homeostasis
- Sarcosine dehydrogenase deficiency
  Sarcosine dehydrogenase deficiency
  - MedGen UID: 120651
  - Concept ID: C0268563
  - Finding: Disease or Syndrome
  Abnormality of metabolism/homeostasis
  See: Feature record | Search on this feature

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