Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosinemia has a varied phenotypic presentation. In rare cases, it is associated with neurodevelopmental and neurological abnormalities. Sarcosine is a key intermediate in 1-carbon metabolism. It has been reported that mutations in the SARDH gene are associated with sarcosinemia. SARDH encodes sarcosine dehydrogenase, a liver mitochondrial matrix enzyme that converts sarcosine into glycine.
Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y
タイトル
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
