Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia

Ifat Bar-Joseph, Elon Pras, Haike Reznik-Wolf, Dina Marek-Yagel, Almogit Abu-Horvitz, Maya Dushnitzky, Nurit Goldstein, Shlomit Rienstein, Michal Dekel, Ben Pode-Shakked, Joseph Zlotnik, Anelia Benarrosh, Philippe Gillery, Niklaus Hofliger, Christiane Auray-Blais, Roselyne Garnotel, Yair Anikster*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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 sarcosine in blood and urine. Using the candidate gene approach we sequenced the gene encoding sarcosine dehydrogenase (SARDH), which plays an important role in the conversion of sarcosine to glycine, and found four different mutations (P287L, V71F, R723X, R514X) in three patients. In an additional patient, we found a uniparental disomy in the region of SARDH gene. In two other patients, we did not find any mutations in this gene. We have shown for the first time that mutations in the SARDH gene are associated with sarcosinemia. In addition, our results indicate that other genes are most probably involved in the pathogenesis of this condition.

Original languageEnglish
Pages (from-to)1805-1810
Number of pages6
JournalHuman Genetics
Issue number11
StatePublished - Nov 2012


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