biocytinase

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biocytinase

[‚bī·ō′sīt·ən‚ās]
(biochemistry)
An enzyme present in the blood and liver which hydrolyzes biocytin into biotin and lysine.
References in periodicals archive ?
In addition to TMS, it is also desirable to add 3 more techniques for a complete screening program: 1) Gas chromatography and mass spectrometer for urine organic acid analysis to confirm diagnosis of organic acidemia and certain fatty acid oxidation disorders; 2) An amino acid High Performance Liquid Chromatography (HPLC) to confirm diagnosis of aminoacidopathies; and 3) AutoDELFIA system for the diagnosis of disease that cannot be identified by TMS namely congenital hypothyroidism, biotinidase deficiency, galactosemia, congenital adrenal hyperplasia, cystic fibrosis, etc.
Valproate can cause biotin deficiency and may lead to low serum and liver tissue biotinidase enzyme (4); a major clinical manifestation of biotin deficiency is alopecia.
53 MU/mL, amino acids normal, organics acids in urine normal, qualitative biotinidase present, anion gap 31.
There is more variability in screening for other conditions such as congenital adrenal hyperplasia and biotinidase deficiency.
Only four conditions (congenital hypothyroidism, biotinidase deficiency, PKU, and medium chain-acyl-CoA dehydrogenase or MCAD) were rated as having treatments that prevent all negative consequences.
It also screens for biotinidase, cystic fibrosis, congenital adrenal hyperplasia, and hearing.
Other diseases being considered to be included in the long term in the PNT, given the required resources, are Biotinidase deficiency, Acquired Immunodeficiency Syndrome (AIDS), and Congenital Deafness.
The patient's zinc, biotinidase, cholesterol, and trigtyceride levels were normal.
Some newborn screening systems include tests for congenital adrenal hyperplasia, homocystinuria, maple syrup urine disease, and biotinidase deficiency.
Universal neonatal screening and follow-up treatment to prevent mental retardation caused by Biotinidase deficiency, PKU and other inherited metabolic disorders.
Testing uses mentioned: Sex selection, cystic fibrosis (CF), Fragile X syndrome, preeclampsia, Down's syndrome, Noonan's syndrome, Batten disease, Duchenne muscular dystrophy, cleft lip, neural tube defects, gastroschisis, clubfoot, intra-amniotic infection, congenital hypothyroidism, biotinidase deficiency, sickle cell anemia, congenital adrenal hyperplasia, phenylketonuria, Tay-Sachs disease, Huntington's disease, polycystic kidney disease (adult), hemophilia A, CHILD syndrome.
The disorders we will be identifying are Biotinidase Deficiency, Galactosemia (Classical Galactosemia, Galactokinase Deficiency & Epimerase Deficiency), Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Cystic fibrosis.