Novel mutations in children with profound biotinidase deficiency from Saudi Arabia
β Scribed by R. J. Pomponio; P. T. Ozand; M. Al Essa; B. Wolf
- Book ID
- 110226535
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 36 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0141-8955
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## Abstract Rotavirus infection was detected in 524 (42.2%) of the 1,242 stool specimens collected from infants and young children with acute gastroenteritis admitted to a major pediatric hospital in Jeddah, Saudi Arabia, between March 1988 and December 1992. Enzymeβlinked immunosorbent assay (ELIS
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