Article
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
Human genetics - 1 Nov 2012
Bar-joseph Ifat, Pras Elon, Reznik-Wolf Haike, Marek-Yagel Dina, Abu-Horvitz Almogit, Dushnitzky Maya, Goldstein Nurit, Rienstein Shlomit, Dekel Michal, Pode-Shakked Ben, Zlotnik Joseph, Benarrosh Anelia, Gillery Philippe, Hofliger Niklaus, Auray-Blais Christiane, Garnotel Roselyne, Anikster Yair
Abstract excerpt
Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosine is a key intermediate in 1-carbon metabolism and under normal circumstances is converted to glycine by the enzyme sarcosine dehydrogenase. We encountered six families from two different descents (French and Arab), each with at least one individual with elevated levels of...
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