Sarcosinemia

Disease Overview

Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine.[11472] It is reportedly most likely benign, unrelated to significant signs or symptoms.[11473][11474][11476] A number of children have been detected by newborn screening and have remained symptom-free.[11475] 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.[11473][11472][11475] However, whether symptoms were attributable to sarcosinemia or were coincidental is controversial.[11476] Sarcosinemia is sometimes caused by mutations in the SARDH gene and is inherited in an autosomal recessive manner.[11473][11476] It may also occur in some people with glutaric acidemia type II or severe folic acid deficiency.[11473] In some cases, the cause is unknown.[11476]

Synonyms

• Sarcosine dehydrogenase complex deficiency
• SARD deficiency
• Hypersarcosinemia
• SARDH deficiency