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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H02657 Sarcosinemia
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06033 Glycine, serine and arginine metabolism
H02657 Sarcosinemia
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
Title
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
