| Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. | |
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MedLine Citation:
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PMID: 2785251 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hyperphenylalaninemia in infants and children may be caused by a deficiency of dihydropteridine reductase (DHPR). Recommended therapy includes folinic acid as a source of tetrahydrofolate, a phenylalanine-restricted diet, and both dopamine and serotonin precursors. We report a child with progressive basal ganglia and other subcortical calcifications prior to the use of folinic acid. Six other reported cases of DHPR deficiency demonstrated similar calcifications prior to folinic acid therapy. Since this pattern of calcification also resembles that seen in CNS folate deficiency caused by both congenital folate deficiency and that which is methotrexate-induced, we propose that intracranial calcification in DHPR deficiency is caused by inadequate CNS tetrahydrofolate and may be prevented by the use of folinic acid. Our patient achieved excellent seizure control following the use of folinic acid, suggesting either a direct or indirect anticonvulsant effect of this compound in patients with DHPR deficiency. |
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Authors:
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R C Woody; M A Brewster; C Glasier |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Neurology Volume: 39 ISSN: 0028-3878 ISO Abbreviation: Neurology Publication Date: 1989 May |
Date Detail:
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Created Date: 1989-06-07 Completed Date: 1989-06-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 673-5 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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radiography Brain Diseases / etiology*, radiography Calcinosis / etiology*, radiography Female Humans Infant, Newborn Leucovorin / therapeutic use* NADH, NADPH Oxidoreductases / deficiency* Phenylketonurias* Seizures / etiology Tomography, X-Ray Computed |
| Chemical | |
Reg. No./Substance:
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58-05-9/Leucovorin; EC 1.6.-/NADH, NADPH Oxidoreductases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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