N5, 10-methylenetetrahydrofolate reductase deficiency and schizophrenia: A working hypothesis

Mudd, S. Harvey; Freeman, John M.

doi:10.1016/0022-3956(74)90101-0

Cited by 18 publications

(2 citation statements)

References 14 publications

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“…There have been many reports that the administration of folate to schizophrenia patients with MTHFR defects normalized their serum homocysteine levels 12,13,26. Mudd et al27 reported that one of three schizophrenia patients who had an MTHFR defect showed improvement in his symptoms after taking folic acid. Freeman et al12 also reported that the administration of folate to a mildly mentally retarded female teenager who had a high homocysteine level due to a disorder in her MTHFR activity improved her symptoms.…”

Section: Discussionmentioning

confidence: 99%

Serum Homocysteine and Folate Levels in Korean Schizophrenic Patients

Kim

Moon

2011

Psychiatry Investig

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ObjectiveThis study was conducted to confirm the results of the authors' previous research on schizophrenia manifesting high serum homocysteine and low folate levels. This study is anchored on a theory that a high serum homocysteine concentration affects schizophrenia by virtue of a neurotoxic mechanism, and on a report that some schizophrenia patients with high homocysteine levels benefited from high folate ingestion.MethodsThe serum homocysteine, folate, and vitamin B12 levels of 236 normal-control-group subjects and 234 schizophrenia subjects who met the diagnostic criteria based on DSM-IV-TR were compared. The homocysteine levels were measured via fluorescence polarization immunoassay, and the folate and vitamin B12 levels were determined via radioimmunoassay.ResultsThe homocysteine levels of the patient group were significantly higher than those of the normal control group. The homocysteine level was more negatively correlated with the folate level in the schizophrenia group than in the control group. The percentages of female and male schizophrenia subjects manifesting high homocysteine levels were 33.8 and 51.5%, respectively. The percentage of schizophrenia subjects with low folate levels was 66.2%. In the low- and normal-folate-level groups, the patient group showed significantly higher homocysteine levels than the normal control group. The low-folate-level patient group particularly showed significantly higher homocysteine levels than the low-folate-level normal control group.ConclusionSome schizophrenia patients with high serum homocysteine levels may have the genetic defect of having low folate serum levels. In such cases, folate ingestion may be a good management modality for clinical improvement.

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Section: Discussionmentioning

confidence: 99%

Serum Homocysteine and Folate Levels in Korean Schizophrenic Patients

Kim

Moon

2011

Psychiatry Investig

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“…Neurological symptoms in MTHFR range from seizures, lethargy, apnoea and coma in early infancy to gait disturbances with lower limb spasticity, weakness, psychiatric behaviour such as schizophrenia-like psychosis (Mudd and Freeman 1974; Regland et al 1994; Pasquier et al 1994), and visual problems in adolescence/adulthood (Haworth et al 1993; Birnbaum et al 2008). Neonates and young infants exhibit acute neurological deterioration, which may be fatal or leave severe neurological deficits.…”

Section: Disease Course and Outcome In Mthfr Deficiencymentioning

confidence: 99%

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Huemer

Diodato

Schwahn

et al. 2016

J of Inher Metab Disea

237

368

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BackgroundRemethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.ObjectiveTo summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management.Data sourcesReview, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach.Key recommendationsWe strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and/or visual and/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-016-9991-4) contains supplementary material, which is available to authorised users.

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