Disease or Syndrome
sarcosinemia
Definitions related to sarcosinemia:
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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). (OMIM)Online Mendelian Inheritance in ManJohns Hopkins University, 2021
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(hypersarcosinemia) An elevated plasma concentration of sarcosine.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine. It is reportedly most likely benign, unrelated to significant signs or symptoms. A number of children have been detected by newborn screening and have remained symptom-free. Some reports have...National Center for Advancing Translational Sciences
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