biotinidase deficiency/cysteine

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Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

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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: novel mutations and their biochemical and clinical correlates.

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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

Three dimensional structure of human biotinidase: computer modeling and functional correlations.

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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

Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster.

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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

Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase.

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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

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