Biotinidase

An enzyme which catalyzes the release of BIOTIN from biocytin. In human, defects in the enzyme are the cause of the organic acidemia MULTIPLE CARBOXYLASE DEFICIENCY or BIOTINIDASE DEFICIENCY.

Also Known As:

Networked: 145 relevant articles (3 outcomes, 9 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Wolf, Barry: 10 articles (03/2021 - 06/2002)
2.	Pindolia, Kirit: 3 articles (09/2017 - 09/2010)
3.	Wolf, B: 3 articles (07/2014 - 01/2003)
4.	Bucci, Ines: 2 articles (01/2022 - 01/2021)
5.	Cicalini, Ilaria: 2 articles (01/2022 - 01/2021)
6.	De Laurenzi, Vincenzo: 2 articles (01/2022 - 01/2021)
7.	Di Michele, Silvia: 2 articles (01/2022 - 01/2021)
8.	Dionisi-Vici, Carlo: 2 articles (01/2022 - 01/2021)
9.	Pieragostino, Damiana: 2 articles (01/2022 - 01/2021)
10.	Rizzo, Cristiano: 2 articles (01/2022 - 01/2021)

Related Diseases

1.	Alopecia (Baldness) 09/01/2006 - "As a conclusion, the partial alopecia which is an initial symptom of reduced biotinidase activity may also be created depending on the reduction of biotinidase activity during valproic acid therapy. " 01/01/2009 - "Use of these powdered milks caused skin diseases and alopecia in some patients possessing thermolabile serum biotinidase, and administration of free biotin improved their symptoms dramatically. " 01/01/1999 - "Since biotinidase is mainly produced in the liver and partial biotinidase deficiency causes dermatological manifestations, seborrheic dermatitis, alopecia etc., isotretinoin side effects in relation to biotinidase activity were studied. " 11/01/2006 - "We report a case of partial biotinidase deficiency (plasma biotinidase levels: 1.30 nm/minute/mL) in a 7-month-old boy who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. " 11/01/1999 - "Absence of biotinidase leads to infantile or early childhood encephalopathy, seizure disorder, dermatitis, alopecia, neural deafness and optic atrophy. "
2.	Skin Diseases (Skin Disease) 01/01/2009 - "Use of these powdered milks caused skin diseases and alopecia in some patients possessing thermolabile serum biotinidase, and administration of free biotin improved their symptoms dramatically. "
3.	Exanthema (Rash) 01/01/2003 - "After biotin supplementation, the skin rash improved and biotinidase activity normalized. "
4.	Atopic Dermatitis (Atopic Eczema) 09/01/1988 - "Oral biotin treatment is effective for atopic dermatitis in children with low biotinidase activity."
5.	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 04/01/2001 - "This study characterises the spectrum of biotinidase mutations in 21 patients (17 families) with profound biotinidase deficiency (BD) and 13 unrelated patients with partial BD using a denaturing gradient gel electrophoretic mutation screening and selective sequencing approach. " 01/01/1990 - "Seventeen partially biotinidase-deficient patients detected by neonatal screening or family studies were compared with four patients with classical biotinidase deficiency. " 01/01/2022 - "Reference interval for biotinidase activity, based on 2.5th and 97.5th percentiles, was from 3.0 to 11.0 nmol/ml/min. Screening of newborns for biotinidase deficiency is crucial to prevent irreversible neurological damage." 01/01/2022 - "Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan." 07/01/2021 - "To identify the biotinidase (BTD) gene mutations in patients with biotinidase deficiency in our region; and to determine the phenotype-genotype correlations in the presence of clinical findings. "

Related Drugs and Biologics

1.	Biotin (Vitamin H)
2.	Enzymes
3.	Valproic Acid (Depakote)
4.	Albumins
5.	Isoenzymes
6.	Cysteamine (Mercaptamine)
7.	Transaminases (Aminotransferases)
8.	pantetheinase (pantetheine hydrolase)
9.	Ligases (Synthetase)
10.	Vitamins

Related Therapies and Procedures

1.	Therapeutics
2.	Oral Administration