חוסר בביטונידאז
עודכן לאחרונה 20 May 2021
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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.
תיאור
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
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
Related patient information and medicines
Patient information leaflet
אנמיה
אנמיה means that you have fewer red blood cells than normal or you have less haemoglobin than normal in each red blood cell. In either case, a reduced amount of oxygen is carried around in the bloodstream. Anaemia types and causes Iron-deficiency anaemia Lack of iron is the most common type of anaemia in the UK. This is called iron-deficiency.
Patient information leaflet
תת-ספיגה במערכת העיכול
Gastrointestinal malabsorption syndrome means a failure to fully absorb digested foods from the gut (bowel) into your body. There are many different causes. Prolonged intestinal malabsorption may cause problems because of a lack of carbohydrates, proteins, fats, minerals and vitamins that are essential to keep you healthy. The treatment will.
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האם אני יכול לקחת ויטמין B12 וויטמין C יחד?
...min B12 deficiencyG6PD deficiency Very high doses of vitamin C can cause oxidative stress and lead to the breakdown of red blood cells (haemolysis) in individuals with G6PD deficiency. Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Disclaimer.
Patient information leaflet
חוסר בוויטמין B12 ואנמיה ממארת
A lack of vitamin B12 leads to anaemia and sometimes to other problems. What is vitamin B12 deficiency. Vitamin B12 deficiency occurs when a person has insufficient vitamin B12. Vitamin B12, also known as cobalamin, is a vitamin that plays a crucial role in various bodily functions. It’s an essential nutrient that the body needs but cannot produce.
Patient information leaflet
האם אני יכול לקחת חומצה פולית וויטמין B12 יחד?
לוקח חומצה פולית on its own can hide (mask) a vitamin B12 deficiency. ... Using other medicines Taking multiple medicines. Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to.
Patient information leaflet
האם אני יכול לקחת קומפלקס ויטמין B וויטמין C יחד?
It is best to take your vitamins with water rather than tea or coffee. Using other medicines Taking multiple medicines. Our בודק אינטראקציות בין תרופות helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do.
קריאה נוספת והפניות
- חוסר בביטונידאז; 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.
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