EC Number   |
General Information |
Reference |
|---|
   3.5.1.12 | malfunction |
biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early |
733935 |
| 3.5.1.12 | malfunction |
biotinidase deficiency is an autosomal recessive disorder of biotin metabolism leading to varying degrees of neurologic and cutaneous symptoms when untreated, phenotypes, overview |
733938 |
| 3.5.1.12 | malfunction |
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 |
713045 |
| 3.5.1.12 | malfunction |
biotinidase deficiency is caused by enzyme mutations, correlation of phenotype and genotype, overview |
734697 |
| 3.5.1.12 | malfunction |
biotinidase deficiency, an autosomal recessively inherited disorder, is characterized by neurologic and cutaneous symptoms and can be detected by newborn screening |
712653 |
| 3.5.1.12 | malfunction |
BTD mutation leads to hepatic glycogen storage diseases, overview |
712652 |
| 3.5.1.12 | 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 |
735056 |
| 3.5.1.12 | physiological function |
BTD is responsible for recycling the vitamin biotin |
712652 |
