Sage Journals: Discover world-class research

Abstract

Homocystinuria usually presents with ectopia lentis, mental retardation, thromboembolic complications, and skeletal abnormalities. Whereas neuropsychiatric abnormalities are often recognized in untreated homocystinuria, initial presentation with acute psychosis has only rarely been reported. We describe a previously well 17-year-old adolescent with an acute psychosis characterized by auditory and visual hallucinations and marked paranoia who was found to have pyridoxine-responsive homocystinuria. His mental state normalized within several weeks of inception of pyridoxine and antipsychotic therapy. Pyridoxine-responsive homocystinuria is commonly missed on neonatal screens and should be recognized as a potentially treatable cause of acute psychosis in childhood and adolescence. (J Child Neurol 2002; 17: 859—860).

Get full access to this article

View all access options for this article.

References

Mudd SH , Levy HC , Skovby F. : Disorders of transsulfuration, in Scriver CR , Beaudet AL , Sly WS , Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 1995, l279—1327.

Mudd SH , Skovby F. , Levy HL , et al: The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985; 37:1-31.

Abbott MH , Folstein SE , Abbey H. , Pyeritz RE : Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: Prevalence, natural history, and relationship to neurologic impairment and vitamin B6 responsiveness. Am J Med Genet 1987;26:959—969.

Freeman JM , Finkelstein JD , Mudd SH : Folate-responsive homocystinuria and “schizophrenia.” A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity . N Engl J Med 1975;292:491—496.

Turner B. : Pyridoxine treatment in homocystinuria. Lancet 1967;2(7526): 1151.

Kaeser AC , Rodnight R. , Ellis BA : Psychiatric and biochemical aspects of a case of homocystinuria. J Neurol Neurosurg Psychiatry 1969;32: 88—93.

Grobe H. : Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients. Eur J Pediatr 1980 ; 135: 199-203.

Homocystinuria Presenting as Psychosis in an Adolescent

Abstract

Get full access to this article

References