Biotinidase article about biotinidase by the free dictionary. Universidade federal do rio grande do sul deficiencia. Biotinidase deficiency synonyms, biotinidase deficiency pronunciation, biotinidase deficiency translation, english dictionary definition of biotinidase deficiency. The resulting shortage of free biotin impairs the activity of biotindependent carboxylases, leading to a buildup of potentially toxic compounds in the body. Doctors circle worlds largest health platform 457 views.
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. Biotindependent carboxylases have essential roles in the intracellular processes by which nutritive material is converted into cellular components, a process. Mar 24, 2000 if untreated, young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ataxia, developmental delay, vision problems, hearing loss, and cutaneous abnormalities e. Symptoms of untreated profound biotinidase deficiency free, unattached form. Biotin is important for the body to be able make certain fats and carbohydrates and break down protein. Biotinidase deficiency genetics home reference nih. If individuals with the disorder are not treated with exogenous biotin, they develop secondary biotin deficiency resulting in reduced conversion of apocarboxylases to holocarboxylases or multiple carboxylase deficiency. This enzyme recycles biotin, a b vitamin found in foods such as liver, egg yolks, and milk. Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal.
Biotinidase can have two unique signal peptides depending on which translation initiation site is used. Biotinidase deficiency definition of biotinidase deficiency. Treatment with oral administration of free biotin can prevent the symptoms cutaneous rash. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes. The btd gene provides instructions for making an enzyme called biotinidase. Children with profound biotinidase deficiency, the more severe form of the condition, may have seizures, weak muscle tone hypotonia, breathing problems, and delayed development. Erros inatos do metabolismo em criancas e recemnascidos. The more severe form of the disorder is called profound biotinidase deficiency and may cause delayed development, seizures, weak muscle tone hypotonia, breathing problems, hearing and vision loss. Mutations in the btd gene cause biotinidase deficiency. Biotinidase protein showing the various peptide regions corresponding to the signal peptide, a nitrilasesamidases homologous domain domain a, a vaninfhit homologous domain domain b, and a region connecting the two domains. Clinical significance edit biotin, sometimes called vitamin h, is an important watersoluble vitamin that aids in the metabolism of fats, carbohydrates and proteins. Without enough of this enzyme, biotin cannot be recycled. Biotinidase deficiency or absence impairs biotin production, leading to a free biotin deficiency and resulting in decreased metabolic activity of the biotindependent carboxylases.
Children or adults with untreated partial biotinidase deficiency may exhibit any of the above signs and symptoms, but the manifestations are mild and occur only when the person is stressed, such as with a prolonged infection. The disorder may become apparent in the first few months of life, or later in childhood. Looking for online definition of biotinidase or what biotinidase stands for. This enzyme also recycles biotin from enzymes in the body that use it as a helper component in order to function. Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and. Aug 04, 2015 the signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Biotin, also called vitamin b 7, is an important watersoluble nutrient that aids in the metabolism of fats. Biotinidase deficiency is a rare, inherited genetic condition. A multiple carboxylase deficiency resulting from a reduction in available biotin secondary to deficient activity of the biotinidase enzyme. Analysis of mutations causing biotinidase deficiencya. Biotinidase deficiency is an inheritable disorder of biotin metabolism. Biotinidase screening results of 172,520 neonates from brazil.
Babies with biotinidase deficiency can not recycle a vitamin called biotin. When two carriers of biotinidase deficiency have children together, there is a 1 in 4 25 percent chance for each child to have biotinidase deficiency. Newborn screening act sheet absent reduced biotinidase. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free unbound state. Carriers do not experience any health problems related to biotinidase deficiency. Biotinidase deficiency is inherited when both parents pass an abnormal biotinidase gene to their child. Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. Biotinidase deficiency nd newborn screening program. Jul 27, 2018 biotinidase deficiency or absence impairs biotin production, leading to a free biotin deficiency and resulting in decreased metabolic activity of the biotindependent carboxylases. Feb 09, 2015 what are metabolic disorders in newborn. A multiple carboxylase deficiency resulting from a reduction in available biotin secondary to deficient activity of.
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