Biotinidase Deficiency
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What is biotinidase deficiency?Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble vitamin that aids in the metabolism of fats, carbohydrates, and proteins. How common is biotinidase deficiency?Approximately 1 in 60,000 newborns are affected by profound (less than 10 percent of normal enzyme activity) or partial (10-30 percent of normal enzyme activity) biotinidase deficiency. What genes are related to biotinidase deficiency?Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations that cause the enzyme to be nonfunctional or to be made at extremely low levels have been identified. Biotin is a vitamin that is chemically bound to proteins. (Most vitamins are only loosely associated with proteins.) Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. Another function of the biotinidase enzyme is to recycle biotin from enzymes that are important in metabolism (processing of substances in cells). When biotin is lacking, specific enzymes called carboxylases cannot process proteins, fats, or carbohydrates. Individuals lacking biotinidase activity can still have normal carboxylases if they ingest small amounts of biotin. How do people inherit biotinidase deficiency?This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Source: National Institutes of Health
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Reports outline sensorineural hearing loss in children research from Hacettepe University
2007 MAR 6 -- Investigators publish new data in the report "Audiologic findings in children with biotinidase deficiency in Turkey." According to recent research from Ankara, Turkey, "Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including sensorineural hearing loss. Although many features of the disorder are reversible following treatment with biotin, the hearing loss appears to be irreversible." "In the present study, hearing status of patients with biotinidase deficiency is characterized in a Turkish population. Subjective and objective audiologic tests were performed on 20 children with profound biotinidase deficiency. Sensorineural hearing loss occurs in approximately 55% of the children with biotinidase deficiency. The hearing loss varies in severity from mild to profound hearing loss. In children diagnosed immediately after birth because they had an older sibling with the disorder, statistically significant differences were found between ABR results and age of diagnosis (p <0.05). Greater prolongation in ABR latencies were observed in the late-diagnosed children compared to that in the early-diagnosed children (p <0.05). Early diagnosis is important to prevent peripheral and central hearing loss. Children with biotinidase deficiency who have hearing loss are likely at increased risk for having speech and language problems. If hearing aids do not provide sufficient amplification, cochlear implantation may be indicated in these children," wrote G.A. Genc and colleagues, Hacettepe University. The researchers concluded: "Therefore, it is important to test the hearing thresholds of these children with hearing aids and evaluate their language development." Genc and colleagues published their study in International Journal of Pediatric Otorhinolaryngology (Audiologic findings in children with biotinidase deficiency in Turkey. International Journal of Pediatric Otorhinolaryngology, 2007;71(2):333-9). For additional information, contact G.A. Genc, Section of Audiology, Dept. of Ear Nose and Throat and Head and Neck Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey. Publisher contact information for the International Journal of Pediatric Otorhinolaryngology is: Elsevier Science Ireland Ltd., Customer Relations Manager, Bay 15, Shannon Industrial Estate, Co. Clare, Ireland. Keywords: Turkey, Ankara, Audiology, Biotinidase Deficiency, Genetics, Metabolic Disease, Otolaryngology, Otorhinolaryngology, Pediatric, Sensorineural Hearing Loss. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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