A deficiency of biotinidase (DBT) is an inaccurate metabolism, of genetic origin and autosomal recessive heresy, which consists of a deficiency of biotinidase enzyme, responsible for the absorption and organic regeneration of biotin, for the success of different enzymes.
The chemical reactions that occur within our organism allow food to be processed or metabolized to be used. The enzymes, proteins are produced by the body, to enable the chemical reactions to occur. Some enzymes require vitamins to be stimulated. Once or not organism produced to certain enzyme in sufficient quantity or enzyme that was manufactured properly. This is why the enzyme has a reduction it gives its success and does not work as it should. Other chemical reactions that depend on this enzyme may also be prejudiced. Enzyme of the enzyme and less than 10% of its normal content are considered deficient. Normally enzymatic deficiencies entail medical problems.
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Thus, most two inborn errors of metabolism, deficiency of biotinidase, autosomal recessive inheritance, presents more than 140 mutations described.
Classification:
- a) profound deficiency of biotinidase;
- b) partial deficiency of biotinidase;
- c) without biotinidase deficiency.
Clinically this disease manifests itself from the seventh week of life with neurological and skin disorders such as epileptic seizures, hypotonia, microcephaly, retardation of neuropsychomotor development, alopecia and eczematoid dermatitis. We patients with late diagnosis observed, visual disturbances, auditory, asymmetry, motor delay and language.
Patients diagnosed during the symptomatic period, frequently with delays in the development and rise of the auditory, visual, and irreversible upper nervous functions, unless otherwise noted neonatal period.
Patients with altered screening tests (partial or total), identified by the biotin enzyme analysis, will be classified as suspects until the confirmation or diagnosis, which will be established from the quantitative test of the biotinidase, and can be complemented with a study. genetic-molecular.
Or drug treatment and simple, very low cost and consists of a use of biotin (vitamin H) in two days of agreement with subclassification of biotin deficiency, based not quantitative test.
Or precocious diagnosis, as well as beginning treatment before the first months of life, assurance to or drinking the normal life without any symptom of the disease. In children diagnosed early, or use of biotin prevented clinical and biochemical abnormalities. Studies demonstrate that the more precociously or treated and instituted, the better the clinical response is.
The prevalence of DBT can vary according to the population studied. Our USA reports of 2000 report to an incidence of 1: 59,000. In Brazil, it is estimated that there will be approximately 3,200 patients with DBT (incidence of approximately 1 to 60,000, in a population of about 190 million inhabitants).