biotinidase造句

• This is referred to as " late-onset " biotinidase deficiency.
• Biotinidase deficiency can also appear later in life.
• Profound biotinidase deficiency refers to situations where enzyme activity is 10 % or less.
• Individuals with partial biotinidase deficiency may have enzyme activity of 10-30 %.
• Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered.
• The enzyme biotinidase cleaves biocytin and makes biotin available to be reused by other enzymes.
• Furthermore, in rare cases, even individuals with profound deficiencies of biotinidase can be asymptomatic.
• The symptoms of biotinidase deficiency ( and dietary deficiency of biotin ) can be quite severe.
• There are at least 21 different mutations that have been found to lead to biotinidase deficiency.
• Individuals lacking functional biotinidase enzymes can still have normal carboxylase activity if they ingest adequate amounts of biotin.
• Symptoms are very similar to biotinidase deficiency and treatment  large doses of biotin  is also the same.
• Biotinidase deficiency is not due to inadequate biotin, but rather to a deficiency in the enzymes that process it.
• Neonatal screening for biotinidase deficiency began in the United States in 1984 and today many countries test for this disorder at birth.
• Biotinidase catalyzes the cleavage of biotin from biocytin and biotinyl-peptides ( the proteolytic degradation products of each holocarboxylase ) and thereby recycles biotin.
• Because biocytin is the natural substrate of the enzyme biotinidase, biocytin can be used to measure the biotinidase activity and therefore diagnose biotinidase deficiency.
• Because biocytin is the natural substrate of the enzyme biotinidase, biocytin can be used to measure the biotinidase activity and therefore diagnose biotinidase deficiency.
• Because biocytin is the natural substrate of the enzyme biotinidase, biocytin can be used to measure the biotinidase activity and therefore diagnose biotinidase deficiency.
• They are for PKU ( phenylketonuria ), congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria and sickle cell anemia.
• The March of Dimes recommends newborn screening for PKU and hypothyroidism, sickle cell and five more rare diseases : congenital adrenal hyperplasia, biotinidase, homocystinuria, maple syrup urine disease and galactosemia.
• _Biotinidase deficiency, occurring once in 70, 000 births, causing deficiency of the essential B vitamin biotin and resulting in frequent infections, uncoordinated movements, hearing loss, seizures and mental retardation.