Biocytin, one of the in vivo subtrates of biotinidase
Specialty
Endocrinology
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. This situation results in biotin deficiency.
Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. Biotin supplementation can alleviate and sometimes totally stop such symptoms.
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Biotinidasedeficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from...
such as multiple carboxylase deficiency (MCD) (which includes biotinidasedeficiency and holocarboxylase synthetase deficiency) can also lead to inborn or...
deficiency. Biotinidasedeficiency is a deficiency of the enzyme that recycles biotin, the consequence of an inherited genetic mutation. Biotinidase catalyzes...
Biotinidase (EC 3.5.1.12, amidohydrolase biotinidase, BTD), also known as biotinase, is an enzyme that in humans is encoded by the BTD gene. The enzyme...
carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase...
not. Biotinidasedeficiency is an inherited disorder that affects how the body is able to process biotin. People will be diagnosed for biotinidase deficiency...
substrate of the enzyme biotinidase, biocytin can be used to measure the biotinidase activity and therefore diagnose biotinidasedeficiency. Biocytin is also...
certain enzymes that depend on biotin. Symptoms are very similar to biotinidasedeficiency and treatment – large doses of biotin – is also the same.[citation...
E, et al. (September 2018). "5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy...
hair loss. Other causes of hair loss include: Alopecia mucinosa Biotinidasedeficiency Chronic inflammation Diabetes Pseudopelade of Brocq Telogen effluvium...
(mucopolysaccharidosis type III) Mitochondrial DNA Mutations Nuclear DNA mutations Biotinidasedeficiency Urea cycle defects Epigenetic mechanisms may increase the risk of...
also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified...
screening. Enzyme assays are used to screen for galactosemia and biotinidasedeficiency. Immunoassays measure thyroid hormones for the diagnosis of congenital...
screening. Enzyme assays are used to screen for galactosemia and biotinidasedeficiency. Immunoassays measure thyroid hormones for the diagnosis of congenital...
of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production...
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