描述
Sarcosinemia (SAR), also called Hypersarcosinemia and SARDH deficiency, is a rare autosomal recessive metabolic disorder characterized by an accumulation of sarcosine in blood plasma and urine. It can result from an inborn error of sarcosine metabolism, or from severe folate deficiency related to the folate requirement for the conversion of sarcosine to glycine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase and converted to glycine by sarcosine dehydrogenase (SARDH). Symptoms include visual impairment, blindness, cardiomyopathy, cranial synostosis, growth and mental retardation.