NIH Rare Diseases
:
53
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 associated sarcosinemia with various symptoms including intellectual disability and other neurologic problems; growth failure; enlarged liver; cardiomyopathy; vision or hearing problems; and skeletal abnormalities. However, whether symptoms were attributable to sarcosinemia or were coincidental is controversial. Sarcosinemia is sometimes caused by mutations in the SARDH gene and is inherited in an autosomal recessive manner. It may also occur in some people with glutaric acidemia type II or severe folic acid deficiency. In some cases, the cause is unknown.
MalaCards based summary
:
Sarcosinemia, also known as
sarcosine dehydrogenase complex deficiency, is related to
craniosynostosis 1 and
multiple acyl-coa dehydrogenase deficiency. An important gene associated with Sarcosinemia is
SARDH (Sarcosine Dehydrogenase), and among its related pathways/superpathways are
Glycerophospholipid biosynthesis and
Glycine, serine and threonine metabolism. Affiliated tissues include
liver, and related phenotype is
hypersarcosinemia.
OMIM
:
57
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).
(268900)
UniProtKB/Swiss-Prot
:
75
Sarcosinemia: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems.
Wikipedia
:
76
Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal...
more...
