Psychiatric manifestations of homocystinuria due to cystathionine β-synthase deficiency: Prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness

M. H. Abbott, S. E. Folstein, H. Abbey, R. E. Pyeritz

Research output: Contribution to journalArticle

82 Scopus citations

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 β-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%, predominantly 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 ≤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.

Original languageEnglish (US)
Pages (from-to)959-969
Number of pages11
JournalAmerican journal of medical genetics
Volume26
Issue number4
DOIs
StatePublished - Jan 1 1987

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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