Literature DB >> 25058035

Skin manifestation of methylmalonic acidemia: case report and review of the literature.

H Karamifar1, N Shakibazad, F Saki, N Saki, S Kardeh.   

Abstract

Skin manifestations, including scalded skin, desquamation, and chronic periorificial dermatitis, are rare clinical signs in patients with methylmalonic acidemia. This condition may be due to enzyme deficiency or multi-nutrient deficiency because of nutritional restriction. Bullous skin lesion is very rare in these patients and consequently, this type of skin lesion can be the presenting sign of methylmalonic acidemia.

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Year:  2014        PMID: 25058035

Source DB:  PubMed          Journal:  G Ital Dermatol Venereol        ISSN: 0392-0488            Impact factor:   2.011


  4 in total

1.  Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology.

Authors:  Lianshu Han; Shengnan Wu; Feng Han; Xuefan Gu
Journal:  Int J Clin Exp Med       Date:  2015-06-15

2.  Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation.

Authors:  Joana Rosa; Ana Beatriz Fraga; Rita de Carvalho; Ana Lúcia Maia; Ana Luísa Rodrigues; Maria Fernanda Gomes
Journal:  Clin Case Rep       Date:  2018-04-14

3.  Acrodermatitis enteropathica-like eruption.

Authors:  Farah El Hadadi; Line Mezni; Nadia Ismaili; Laila Benzekri; Karima Senouci
Journal:  JAAD Case Rep       Date:  2022-03-25

4.  TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.

Authors:  Tal Erlich-Hadad; Rita Hadad; Anat Feldman; Hagar Greif; Michal Lictenstein; Haya Lorberboum-Galski
Journal:  J Cell Mol Med       Date:  2017-12-19       Impact factor: 5.310

  4 in total

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