title: Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.
abstract: Homocystinuria commonly affects the central nervous system (CNS), primarily as mental retardation, seizures, and stroke. Case reports have long suggested a predisposition to schizophrenia, but no careful study of predisposition to psychiatric illness has been performed. Accordingly, we evaluated 63 persons with homocystinuria due to cystathionine beta-synthase deficiency for psychiatric disturbance, intelligence, evidence of other CNS problems, and responsiveness to vitamin B6. The overall rate of clinically significant psychiatric disorders was 51%, predominated by four diagnostic categories: episodic depression (10%), chronic disorders of behavior (17%), chronic obsessive-compulsive disorder (5%), and personality disorders (19%). The average IQ was 80 +/- 27 (1 SD); and an IQ of less than or equal to 79 was two-thirds more common among vitamin B6-nonresponsive patients compared to vitamin B6-responsive patients. Aggressive behavior and other disorders of conduct were particularly common among patients with mental retardation and among vitamin B6-nonresponsive patients.
mesh_terms: D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D003863:Depression / Q000150:complications; D006712:Homocystinuria / Q000150:complications* / Q000628:therapy; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D007360:Intelligence; D019964:Mood Disorders / Q000150:complications; D009771:Obsessive-Compulsive Disorder / Q000150:complications; D010554:Personality Disorders / Q000150:complications; D011618:Psychotic Disorders / Q000150:complications*; D011736:Pyridoxine / Q000627:therapeutic use*
chemical_list: D006836:Hydro-Lyases; D003541:Cystathionine beta-Synthase; D011736:Pyridoxine