3.5.1.12: biotinidase
This is an abbreviated version!
For detailed information about biotinidase, go to the full flat file.
Word Map on EC 3.5.1.12
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3.5.1.12
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newborn
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children
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seizure
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infant
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urine
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holocarboxylase
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inborn
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child
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hearing
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acidosis
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alopecia
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phenylketonuria
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carboxylases
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biotinylation
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symptomatic
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treatable
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biotin-dependent
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ataxia
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hypotonia
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hypothyroidism
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late-onset
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rash
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galactosemia
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acidurias
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avidin
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homocystinuria
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maple
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acidemia
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medicine
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syrup
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lipoylated
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biotin-responsive
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neurocutaneous
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lethargy
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biotin-binding
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paraparesis
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biotin-deficient
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seborrheic
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hyperammonemia
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3-methylcrotonyl-coa
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diagnostics
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analysis
- 3.5.1.12
- newborn
- children
- seizure
- infant
- urine
- holocarboxylase
-
inborn
- child
-
hearing
- acidosis
- alopecia
- phenylketonuria
- carboxylases
-
biotinylation
-
symptomatic
-
treatable
-
biotin-dependent
- ataxia
- hypotonia
- hypothyroidism
-
late-onset
- rash
- galactosemia
- acidurias
- avidin
- homocystinuria
-
maple
- acidemia
- medicine
- syrup
-
lipoylated
-
biotin-responsive
-
neurocutaneous
- lethargy
-
biotin-binding
- paraparesis
-
biotin-deficient
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seborrheic
-
hyperammonemia
- 3-methylcrotonyl-coa
- diagnostics
- analysis
Reaction
Synonyms
amidohydrolase biotinidase, biocytin hydrolyzing amidase, biotinidase, biotinyl-hydrolase, BTD, lipoamidase, lipolysine hydrolase, lipoyl-X-hydrolase
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General Information on EC 3.5.1.12 - biotinidase
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GENERAL INFORMATION 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
malfunction
physiological function
BTD is responsible for recycling the vitamin biotin
malfunction
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biotinidase deficiency is an autosomal recessive disorder of biotin metabolism that causes incomplete recycling of free biotin. The resulting depletion of intracellular biotin leads to impaired activities of biotin-dependent carboxylases. The ensuing clinical phenotype includes progressive neurologic deterioration with epileptic seizures, muscular hypotonia as well as skin eczema
malfunction
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biotinidase deficiency, an autosomal recessively inherited disorder, is characterized by neurologic and cutaneous symptoms and can be detected by newborn screening
malfunction
BTD mutation leads to hepatic glycogen storage diseases, overview
malfunction
biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early
malfunction
biotinidase deficiency is an autosomal recessive disorder of biotin metabolism leading to varying degrees of neurologic and cutaneous symptoms when untreated, phenotypes, overview
malfunction
biotinidase deficiency is caused by enzyme mutations, correlation of phenotype and genotype, overview
malfunction
loss of overall biotinidase expression is associated with poor disease free survival in case of thyroid cancer, effect of subcellular compartmentalization of nuclear and cytoplasmic biotinidase on patient survival, correlation of biotinidase expression with clinico-pathological parameters of thyroid cancer patients, overview
