Deficienza di biotinidasi
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Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
Descrizione
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed.
Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
BIOT
BTD deficiency
Carboxylase deficiency, multiple, late-onset
Late-onset biotin-responsive multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
Multiple carboxylase deficiency, late-onset
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Ulteriori letture e riferimenti
- Deficienza di biotinidasi; MedlinePlus, National Library of Medicine.
- Dobrowolski SF, Angeletti J, Banas RA, Naylor EW. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Mol Genet Metab. 2003 Feb;78(2):100-7. doi: 10.1016/s1096-7192(02)00231-7.
- Sivri HS, Genc GA, Tokatli A, Dursun A, Coskun T, Aydin HI, Sennaroglu L, Belgin E, Jensen K, Wolf B. Hearing loss in biotinidase deficiency: genotype-phenotype correlation. J Pediatr. 2007 Apr;150(4):439-42. doi: 10.1016/j.jpeds.2007.01.036.
- Wolf B. Biotinidase Deficiency. 2000 Mar 24 [updated 2026 Feb 19]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1322/
- Wolf B. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genet Med. 2012 Jun;14(6):565-75. doi: 10.1038/gim.2011.6. Epub 2012 Jan 5.
- Wolf B. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab. 2010 May;100(1):6-13. doi: 10.1016/j.ymgme.2010.01.003. Epub 2010 Jan 11.
- Wolf B. The neurology of biotinidase deficiency. Mol Genet Metab. 2011 Sep-Oct;104(1-2):27-34. doi: 10.1016/j.ymgme.2011.06.001. Epub 2011 Jun 12.
Storia dell'articolo
Articolo disponibile anche in Inglese, Tedesco, Spagnolo, Francese, Italiano, Portoghese, Hindi, Ebraico, Arabo, and Svedese.
20 maggio 2021 | Ultima versione
1 Dec 2014 | Pubblicato originariamente
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