Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.

2.50
Hdl Handle:
http://hdl.handle.net/10147/252482
Title:
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
Authors:
Crushell, Ellen; O'Leary, Daire; Irvine, Alan D; O'Shea, Anne; Mayne, Philip D; Reardon, William
Affiliation:
National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland. ellen.crushell@cuh.ie
Citation:
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. 2012, 158A (9):2254-7 Am. J. Med. Genet. A
Journal:
American journal of medical genetics. Part A
Issue Date:
Sep-2012
URI:
http://hdl.handle.net/10147/252482
DOI:
10.1002/ajmg.a.35479
PubMed ID:
22848014
Abstract:
We report on the case of a 2-year-old girl recently diagnosed with Methylenetetrahydrofolate reductase (MTHFR) deficiency who originally presented in the neonatal period with a distinctive rash. At 11 weeks of age she developed seizures, she had acquired microcephaly and developmental delay. The rash deteriorated dramatically following commencement of phenobarbitone; both rash and seizures abated following empiric introduction of pyridoxine and folinic acid as treatment of possible vitamin responsive seizures. We postulate that phenobarbitone in combination with MTHFR deficiency may have caused her rash to deteriorate and subsequent folinic acid was helpful in treating the rash and preventing further acute neurological decline as commonly associated with this condition.
Language:
en
MeSH:
Child, Preschool; Exanthema; Female; Humans; Methylenetetrahydrofolate Reductase (NADPH2)
ISSN:
1552-4833

Full metadata record

DC FieldValue Language
dc.contributor.authorCrushell, Ellenen_GB
dc.contributor.authorO'Leary, Daireen_GB
dc.contributor.authorIrvine, Alan Den_GB
dc.contributor.authorO'Shea, Anneen_GB
dc.contributor.authorMayne, Philip Den_GB
dc.contributor.authorReardon, Williamen_GB
dc.date.accessioned2012-11-16T16:02:07Z-
dc.date.available2012-11-16T16:02:07Z-
dc.date.issued2012-09-
dc.identifier.citationMethylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. 2012, 158A (9):2254-7 Am. J. Med. Genet. Aen_GB
dc.identifier.issn1552-4833-
dc.identifier.pmid22848014-
dc.identifier.doi10.1002/ajmg.a.35479-
dc.identifier.urihttp://hdl.handle.net/10147/252482-
dc.description.abstractWe report on the case of a 2-year-old girl recently diagnosed with Methylenetetrahydrofolate reductase (MTHFR) deficiency who originally presented in the neonatal period with a distinctive rash. At 11 weeks of age she developed seizures, she had acquired microcephaly and developmental delay. The rash deteriorated dramatically following commencement of phenobarbitone; both rash and seizures abated following empiric introduction of pyridoxine and folinic acid as treatment of possible vitamin responsive seizures. We postulate that phenobarbitone in combination with MTHFR deficiency may have caused her rash to deteriorate and subsequent folinic acid was helpful in treating the rash and preventing further acute neurological decline as commonly associated with this condition.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to American journal of medical genetics. Part Aen_GB
dc.subject.meshChild, Preschool-
dc.subject.meshExanthema-
dc.subject.meshFemale-
dc.subject.meshHumans-
dc.subject.meshMethylenetetrahydrofolate Reductase (NADPH2)-
dc.titleMethylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.en_GB
dc.contributor.departmentNational Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland. ellen.crushell@cuh.ieen_GB
dc.identifier.journalAmerican journal of medical genetics. Part Aen_GB
dc.description.provinceLeinsteren

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