Mental retardation in Down syndrome: a hydrogen sulfide hpothesis.
Mental retardation is progressive in Down syndrome: individuals are born with normal intelligence which starts to decline linearly within the first year. This phenomenon can be observed with phenylalanine in patients with phenylketonuria, therefore it is compatible with metabolic intoxication. The toxic compound could be hydrogen sulfide. The amount of the compound is probably increased in Down syndrome by increasing active cystathionine beta synthase. This heuristic hypothesis requires further investigation.
Kamoun
P
P
Laboratoire de Biochimie médicale B, Hôpital Necker - Enfants Malades, Paris, France. pierre.kamoun@nck.ap-hop-paris.fr
D004314:Down Syndrome / Q000150:complications* / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D006862:Hydrogen Sulfide / Q000378:metabolism*; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000209:etiology / Q000503:physiopathology; D007360:Intelligence
D006862:Hydrogen Sulfide