A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine Sarcosinemia is a rare inborn error of metabolism that is characterised by an increased level of sarcosine (N-methylglycine) in the plasma and urine. The enzymatic block results from a deficiency of sarcosine dehydrogenase (SarDH), a liver mitochondrial matrix enzyme that converts sarcosine into glycine . Although this condition may remain inapparent until later life, it has been reported in rare cases to lead to neurodevelopmental disability. A 19-year-old male with sarcosinemia presented with dystonia, developmental delay and cognitive impairment. Magnetic resonance imaging revealed vermian hypotrophy. A 2-year pharmacological treatment with memantine was negative on the clinical signs. In this case
to the proportion of native Indians in the total study population (5.8%). Congenital lactic acidosis due to pyruvate carboxylase deficiency (13 patients), glutaric aciduria type I (14 patients) and primary hyperoxaluria type II (8 patients) were the most common disorders detected. Other rare disorders included glutaric aciduria type II (one patient), 2-hydroxyglutaric aciduria (one patient) and sarcosinemia (one
defective in patients with sarcosinemia. Genomics. 1999 Aug 1;59(3):300-8. Levy HL, Coulombe JT, Benjamin R. Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. Pediatrics. 1984 Oct;74(4):509-13. Harding CO, Williams P, Pflanzer DM, Colwell RE, Lyne PW, Wolff JA. sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis. Proc Natl Acad Sci U S A. 1992