Psychiatric and biochemical aspects of a case of homocystinuria.

Kaeser, Alexandra; Rodnight, Richard; Ellis, Bri

doi:10.1136/jnnp.32.2.88

Cited by 17 publications

(10 citation statements)

References 19 publications

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“…Stroke, mental retardation, and seizures have been studied extensively, but psychiatric impairment has received considerably less attention. For example, three patients with cystathionine P-synthase deficiency were said to have schizophrenia, but the clinical details were insufficient to confirm this diagnosis [Schimke et al, 1965;Beals, 1969;Rahman, 19721. Other patients with a variety of pyschiatric symptoms have been described, but only superficially [McKusick, 1972;Turner, 1967;Hagberg and Hambraeus, 1968;Price et al, 1968;Kaeser et al, 1969;Kang et al, 19701. Furthermore, any relationships among intelligence, biochemical characteristics, and neuropsychiatric problems have not been examined formally.…”

Section: Introductionmentioning

confidence: 97%

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

et al. 1987

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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.

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Section: Introductionmentioning

confidence: 97%

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

et al. 1987

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“…Adenosine then acts in inhibiting the firing of cells fully capable of functional activity, as generalized in the concept of purinermc inhibitory tone (see Introduction). Such inhibition has been postulated to be involved in aspects of information processing in cerebral systems (McIlwain and Bachelard, 1985); its diminution by homocysteine can be seen to contribute to excitatory components of honocysteinemia, and also to other mental abnormalities reported in that condition (Kaeser, Rodnight, and Ellis, 1969;Mudd and Levy, 19781, as documented elsewhere (McIlwain and Poll, 1985).…”

Section: Adenosine Intracellular and Extracellularmentioning

confidence: 80%

Adenosine in cerebral homeostatic role: Appraisal through actions of homocysteine, colchicine, and dipyridamole

McIlwain

Poll

1986

J. Neurobiol.

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Mammalian neocortical tissues were incubated in [14C]adenine-containing fluids and their newly-synthesized adenine derivatives examined after periods of superfusion. Increased [K+] released adenine derivatives from the tissues, a release diminished by homocysteine. Homocysteine acted also to diminish the tissue content of adenosine plus its metabolites hypoxanthine and inosine, while increasing that of S-adenosylhomocysteine. Hypoxia also increased the tissue content and the output of adenosine plus its metabolites, and again homocysteine augmented the S-adenosylhomocysteine. Glutamic acid also increased tissue content and output of adenosine and derivatives, an action diminished by homocysteine and associated with augmented S-adenosylhomocysteine. Colchicine or dipyridamole did not prevent augmentation of S-adenosylhomocysteine by the reagents described; the sequence from adenosine phosphates to S-adenosylhomocysteine is concluded to be intracellular and not to involve extracellular formation of precursor adenosine. Adenosine displayed properties consistent with its being involved in two distinct categories of homeostasis, and also with its exerting an inhibitory tone in normal cerebral systems.

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“…The late occurrence of psychiatric symptoms has been reported in adults with homocystinuria [4,15,16]. An acute psychosis has been reported so far in three CBS deficiency patients [4,15,17], and a behavioral or psychiatric disorder as first symptom of homocystinuria occurs in only 2.8 % of patients [4,5]. Previously reported patients showed different clinical phenotypes and a sparse or inconsistent responsiveness to vitamin supplementation (see Table 1).…”

Section: Discussionmentioning

confidence: 91%

Acute psychosis in an adolescent with undiagnosed homocystinuria

et al. 2015

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Psychiatric and biochemical aspects of a case of homocystinuria.

Cited by 17 publications

References 19 publications

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

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

Adenosine in cerebral homeostatic role: Appraisal through actions of homocysteine, colchicine, and dipyridamole

Acute psychosis in an adolescent with undiagnosed homocystinuria

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Psychiatric and biochemical aspects of a case of homocystinuria.

Cited by 17 publications

References 19 publications

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

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

Adenosine in cerebral homeostatic role: Appraisal through actions of homocysteine, colchicine, and dipyridamole

Acute psychosis in an adolescent with undiagnosed homocystinuria

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

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