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    Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.

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    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
    Issue Date
    2012-09
    MeSH
    Child, Preschool
    Exanthema
    Female
    Humans
    Methylenetetrahydrofolate Reductase (NADPH2)
    
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    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
    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
    ISSN
    1552-4833
    ae974a485f413a2113503eed53cd6c53
    10.1002/ajmg.a.35479
    Scopus Count
    Collections
    Temple Street Hospital

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