Acute psychosis in an adolescent with undiagnosed homocystinuria

Colafrancesco, Giada; Marzio, Giulia Maria Di; Abbracciavento, Giuseppe; Stoppioni, Vera; Leuzzi, Vincenzo; Ferrara, Mauro

doi:10.1007/s00431-015-2552-2

Cited by 14 publications

(8 citation statements)

References 20 publications

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“…Since 1987 when this review appeared, additional case reports highlighting psychiatric disorders have become available. 8,9 These reports support the hypothesis that elevations of methionine and homocysteine, the primary metabolites affected by homocystinuria, may indeed be involved with an expanded repertoire of psychiatric phenotypes. 7 Of note, the incidence of depression in the general population is 7.6% per Centers for Disease Control and Prevention (CDC) reports.…”

Section: Introductionmentioning

confidence: 70%

Revising the Psychiatric Phenotype of Homocystinuria

Almuqbil

Waisbren

Levy

et al. 2019

Genetics in Medicine

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Purpose: Associations of psychiatric and psychological symptoms with homocystinuria (HCU) have been described in multiple reports. This retrospective study was undertaken to refine the psychological phenotype among HCU patients and identify biomedical markers that could be used for prediction of those psychiatric or psychological symptoms.Methods: This study examines the prevalence of psychological symptoms within a sample of 25 patients with classical homocystinuria.Results: Psychological symptoms were noted in 16 of the 25 patients in the sample (64%), including a high prevalence of both anxiety (32%) and depression (32%) and correlated with IQ < 85. There was no difference in the type or the number of psychological symptoms between those diagnosed from newborn screening and early treated and those treated after 2 years of age. Conclusion:The results support the possible role of homocysteine as a risk factor for psychological and psychiatric problems and cognitive deficits and suggest that earlier diagnosis and treatment may reduce risk of their occurrences. Although early treatment clearly prevented serious medical complications, psychological and psychiatric symptoms were not associated with medical complications, highlighting the need for continued investigation.

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Section: Introductionmentioning

confidence: 70%

Revising the Psychiatric Phenotype of Homocystinuria

Almuqbil

Waisbren

Levy

et al. 2019

Genetics in Medicine

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“…The most characteristic and earliest symptoms of homocystinuria are subluxation of the lens and progressive myopia. Mental retardation, cognitive impairment, a Marfan-like phenotype, osteoporosis, and cerebrovascular and cardiac thrombosis are other presenting symptoms ( 7 ). The wide range of both symptoms and severity can make diagnosis a challenge for even the most experienced clinician.…”

Section: Discussionmentioning

confidence: 99%

“…The normal plasma homocysteine level is 5 - 15 µmol/L; 16 - 30 µmol/L is moderate, 31 - 100 µmol/L is intermediate, and a level above 100 µmol/L indicates severe homocysteinemia ( 7 , 12 , 13 ). Thus, the patient’s homocysteine level, 282 µmol/L, was considered extremely high.…”

Section: Discussionmentioning

confidence: 99%

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A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report

Erol

Gayret

Yiğit

et al. 2016

Iran Red Crescent Med J

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IntroductionHomocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. Homocystinuria can influence many systems and may be mistaken for other diseases, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a diagnosis of Moyamoya disease who had been monitored for that for an extended period. The patient’s diagnosis was changed to homocystinuria as a result of lens subluxation and cataract findings.Case PresentationA 10-year-old male patient presented with vomiting, headache, lethargy, muscular weakness, and eye redness. The patient was mentally retarded, his right pupil was hyperemic, and he had muscle weakness on his left side. In addition, his blood pressure was high. The patient’s history included a diagnosis of Moyamoya. A neck and cranial computed tomography (CT) angiography showed no flow bilaterally past the bifurcation of the carotid artery. The patient’s bilateral internal carotid arteries were determined to be occluded. It was considered that his eye findings could be compatible with a metabolic disease. On metabolic screening, the patient’s homocysteine level was very high. In addition, a heterozygous A1298C mutation was identified in MTHFR. Therefore, the patient was started on a diet free from homocysteine and methionine. In addition, his treatment regimen included vitamins B12 and B6. With these treatments, the patient’s complications regressed.ConclusionsIn cases of unusual vascular lesions, metabolic diseases must be considered. In homocystinuria, early diagnosis and treatment are important. Blood homocysteine levels can be returned to normal, and some complications can be prevented.

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“…These psychotic episodes do not respond to conventional antipsychotics. Vitamin supply of folic acid and pyridoxine improves the delusional spectrum (Colafrancesco et al 2015 ).…”

Section: Cysteine and Sulfur Metabolismmentioning

confidence: 99%

Schizophrenia as metabolic disease. What are the causes?

Helaly

Ghorab

2023

Metab Brain Dis

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Schizophrenia (SZ) is a devastating neurodevelopmental disease with an accelerated ageing feature. The criteria of metabolic disease firmly fit with those of schizophrenia. Disturbances in energy and mitochondria are at the core of complex pathology. Genetic and environmental interaction creates changes in redox, inflammation, and apoptosis. All the factors behind schizophrenia interact in a cycle where it is difficult to discriminate between the cause and the effect. New technology and advances in the multi-dispensary fields could break this cycle in the future.

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Acute psychosis in an adolescent with undiagnosed homocystinuria

Abstract: • The complete psychotic symptoms' remission with pharmacological doses of pyridoxine and folic acid, without antipsychotic drugs.

Cited by 14 publications

References 20 publications

Revising the Psychiatric Phenotype of Homocystinuria

Revising the Psychiatric Phenotype of Homocystinuria

A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report

Schizophrenia as metabolic disease. What are the causes?

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