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Literature DB >> 3755752

Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism.

P T Clayton, I Smith, B Harding, K Hyland, J V Leonard, R J Leeming.

Abstract

A 2-year-old girl with 5,10-methylenetetrahydrofolate reductase deficiency developed subacute combined degeneration of the cord and a leuco-encephalopathy which was confirmed at necropsy. Total folate concentrations in serum, red cells and CSF were markedly reduced whereas vitamin B12 concentrations were normal. In addition the patient had Parkinsonism and reduced concentrations of homovanillic acid, 5-hydroxyindoleacetic acid and total biopterins in cerebrospinal fluid. Folic acid administration was accompanied by fits and acute deterioration in the movement disorder. At necropsy the basal ganglia showed no detectable abnormality.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1986 PMID： 3755752 PMCID： PMC1028954 DOI： 10.1136/jnnp.49.8.920

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

25 in total

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Journal: Ann Neurol Date: 1977-03 Impact factor: 10.422

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Journal: Lancet Date: 1981-08-15 Impact factor: 79.321

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Authors: C A Nichol; C L Lee; M P Edelstein; J Y Chao; D S Duch
Journal: Proc Natl Acad Sci U S A Date: 1983-03 Impact factor: 11.205

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Journal: Lancet Date: 1981-08-15 Impact factor: 79.321

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Authors: O Guard; R Dumas; D Audry; M Tommasi; J F Knopf
Journal: Rev Neurol (Paris) Date: 1981 Impact factor: 2.607

10. Excretion of pterins in phenylketonuria and phenylketonuria variants.

Authors: A Niederwieser; H C Curtius; R Gitzelmann; A Otten; K Baerlocher; B Blehovà; S Berlow; H Gröbe; F Rey; J Schaub; S Scheibenreiter; H Schmidt; M Viscontini
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21 in total

1. Folate and depression--a neglected problem.

Authors: Simon N Young
Journal: J Psychiatry Neurosci Date: 2007-03 Impact factor: 6.186

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Journal: Drugs Date: 1993-05 Impact factor: 9.546

3. Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.

Authors: A Broomfield; L Abulhoul; W Pitt; E Jameson; M Cleary
Journal: JIMD Rep Date: 2014-07-06

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Review 5. Hyperhomocysteinaemia; with reference to its neuroradiological aspects.

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6. Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

Authors: L Knowles; A A M Morris; J H Walter
Journal: JIMD Rep Date: 2016-02-23

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Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982