Biotinidase deficiency 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 biotinidase deficiency and holocarboxylase synthetase deficiency) can also lead to inborn or...

deficiency. Biotinidase deficiency 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...

certain enzymes that depend on biotin. Symptoms are very similar to biotinidase deficiency and treatment – large doses of biotin – is also the same.[citation...

not. Biotinidase deficiency 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 biotinidase deficiency. Biocytin is also...

carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase...

include:[citation needed] Genetic conditions Biotinidase deficiency, multiple carboxylase deficiency, or nongenetic deficiencies of biotin Diabetes mellitus and deafness...

screening results in a 2-year period, or 0.53%, compared with 6.36% for biotinidase deficiency, 1.84% for congenital hypo-thyroidism, 0.56% for classic galactosemia...

lyase deficiency, biotinidase deficiency, multiple carboxylase deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency and malonic aciduria...

E, et al. (September 2018). "5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy...

Sturge–Weber syndrome Maple syrup urine disease Phenylketonuria Biotinidase deficiency Ohtahara syndrome PEHO syndrome Leukodystrophy Mitochondrial diseases...

Yousef I; Wijeratne, Subhashinee SK (2008-11-01). "Biotin and biotinidase deficiency". Expert Review of Endocrinology & Metabolism. 3 (6): 715–724. doi:10...

(mucopolysaccharidosis type III) Mitochondrial disease Nuclear DNA mutations Biotinidase deficiency Urea cycle defects Epigenetic mechanisms may increase the risk of...

Bipolar disorder Bipolar I disorder Bipolar II disorder Biotin deficiency Biotinidase deficiency Bird headed dwarfism Montreal type Birdshot chorioretinopathy...

hair loss. Other causes of hair loss include: Alopecia mucinosa Biotinidase deficiency Chronic inflammation Diabetes Pseudopelade of Brocq Telogen effluvium...

used in the synthesis of acetyl-CoA and other compounds. During biotin deficiency, HMB can be synthesized from MC-CoA via enoyl-CoA hydratase and an unknown...

Sanfilippo syndrome 277.6 Other deficiencies of circulating enzymes Alpha 1-antitrypsin deficiency Biotinidase deficiency Hereditary angioedema 277.7 Dysmetabolic...

also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified...

kinase deficiency Methylmalonic acidemia Maple syrup urine disease Homocystinuria Tyrosinemia Trimethylaminuria Hartnup disease Biotinidase deficiency Ornithine...

AKR1D1 Bile acid synthesis defect, congenital, 4; 214950; AMACR Biotinidase deficiency; 253260; BTD Birk–Barel mental retardation dysmorphism syndrome;...

fibrosis (CF) > 1 in 5,000 Congenital hypothyroidism (CH) > 1 in 5,000 Biotinidase deficiency (BIOT) > 1 in 75,000 Congenital adrenal hyperplasia (CAH) > 1 in...

Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus syndrome Biotinidase deficiency Blepharophimosis, epicanthus inversus and ptosis type 1...

Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency", Organic Acidurias: Proceedings of the 21st Annual Symposium of...

screening. Enzyme assays are used to screen for galactosemia and biotinidase deficiency. Immunoassays measure thyroid hormones for the diagnosis of congenital...

screening. Enzyme assays are used to screen for galactosemia and biotinidase deficiency. Immunoassays measure thyroid hormones for the diagnosis of congenital...

carboxylase deficiency MeSH C18.452.648.066.620.100 – biotinidase deficiency MeSH C18.452.648.066.620.380 – holocarboxylase synthetase deficiency MeSH C18...

carboxylase deficiency MeSH C16.320.565.066.620.100 – biotinidase deficiency MeSH C16.320.565.066.620.380 – holocarboxylase synthetase deficiency MeSH C16...

of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production...