biotinidase deficiency/l システイン

Biotinidase deficiency is an autosomal recessively inherited disorder in the recycling of the vitamin biotin. The most common mutation that causes profound biotinidase deficiency in symptomatic individuals is a deletion/insertion (G98:d7i3) that occurs in exon B of the biotinidase gene. We now

Biotinidase deficiency is a defect in the recycling of the vitamin biotin. Biotin supplementation can markedly improve the neurological and cutaneous symptoms of affected children and prevent symptoms in children identified by newborn screening or treated since birth. We have determined thirteen

Untreated individuals with deficient activity of biotinidase, the enzyme responsible for recycling the vitamin biotin, usually exhibit neurological and cutaneous findings. To better understand the variability in expression of the disorder it is important to understand the structure of the enzyme and

Biotinidase deficiency is an autosomal recessively inherited disorder that is characterized by the failure to recycle biotin. Many of the known mutations that cause profound biotinidase deficiency are due to missense mutations that alter amino acids that are presumably important for proper enzyme

A search of protein databases revealed amino acid homologies among human biotinidase, bacterial aliphatic amidases, and bacterial and plant nitrilases. Amino acids YRK(210-212) of biotinidase are conserved among the enzyme families. This homology and naturally occurring mutations that cause