Irish Health Repository >
Hospital Research >
Temple Street Hospital >
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
|Files in This Item:|
There are no files associated with this item.
|Title: ||Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.|
|Affiliation: ||National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland. email@example.com|
|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 |
|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.|
|MeSH: ||Child, Preschool|
Methylenetetrahydrofolate Reductase (NADPH2)
|Appears in Collections: ||Temple Street Hospital|
this identifier to cite or link
to this item:
|Related articles on PubMed|
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S
|See all 102 articles|
All Items in LENUS are protected by copyright, with all rights reserved, unless otherwise indicated.