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Multiple Carboxylase Deficiency (Late Onset) Due to Deficiency of Biotinidase

Biotinidase is a ubiquitous mammalian cell enzyme occurring in liver, serum and kidney. It cleaves biotin from biocytin, which is a cofactor for biotin dependent enzymes, namely the human carboxylases. Biotinidase deficiency is associated with a wide spectrum of neurological, dermatological, immunol...

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Detalles Bibliográficos
Autores principales: Mukhopadhyay, Debadatta, Das, Manoj Kumar, Dhar, Sandipan, Mukhopadhyay, Maya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4171924/
https://www.ncbi.nlm.nih.gov/pubmed/25284861
http://dx.doi.org/10.4103/0019-5154.139910
Descripción
Sumario:Biotinidase is a ubiquitous mammalian cell enzyme occurring in liver, serum and kidney. It cleaves biotin from biocytin, which is a cofactor for biotin dependent enzymes, namely the human carboxylases. Biotinidase deficiency is associated with a wide spectrum of neurological, dermatological, immunological and ophthalmological abnormalities. This is a case of a 3-year-old boy presenting with delayed developmental milestones, tachypnea, progressively increasing ataxia, alopecia and dermatitis, all which dramatically responded to high doses of biotin.