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

Double mutation (A171T) and (D444H) is a

Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

✍ Karen J. Norrgard; Robert J. Pomponio; Katie L. Swango; Jeanne Hymes; Thomas Rey 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 356 KB 👁 1 views

Biotinidase deficiency is inherited as an autosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascert