title: A young adult with sarcosinemia. No benefit from long duration treatment with memantine.
abstract: 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, it was concluded that the metabolic block leading to sarcosinemia was responsible of a pathologic condition with mental deficiency and complex neurological signs. A maternal isodisomy discovered in the vicinity of SarDH gene could contribute to this pathology. Deficit of SarDH may be considered as a differential diagnosis of growth failure during prenatal stages and respiratory failure at birth following a slowly progressive developmental delay.
authors: Neurology Department and CMRR, CHU Reims, France. a.benarrosh@gmail.com.|Neurology Department and CMRR, 45 Cognacq Jay str., 51092, Reims cedex CHU Reims, France. a.benarrosh@gmail.com.
authors: A
authors: A
authors: Benarrosh
authors: Laboratory of Pediatric Biology and Research, American Memorial Hospital, CHU Reims, France.
authors: R
authors: R
authors: Garnotel
authors: Neurology Department and CMRR, CHU Reims, France.
authors: A
authors: A
authors: Henry
authors: Ophthalmology Department, CHU Reims, France.
authors: C
authors: C
authors: Arndt
authors: Laboratory of Pediatric Biology and Research, American Memorial Hospital, CHU Reims, France.
authors: P
authors: P
authors: Gillery
authors: Pediatric Department, American Memorial Hospital, CHU Reims, France.
authors: J
authors: J
authors: Motte
authors: Neurology Department and CMRR, CHU Reims, France.
authors: S
authors: S
authors: Bakchine