Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Abstract

Mutation analysis performed on DNA from 6 Italian patients with partial biotinidase deficiency ascertained by newborn screening allowed the identification of two new mutations, c1211C > T (T404I) and a single base deletion c594delC. All patients were compound heterozygous for the D444H amino acid substitution showing that this mutation is also common in Italian patients affected by partial biotinidase deficiency.

• Authors: S Funghini, M A Donati, E Pasquini, S Gasperini, F Ciani, A Morrone, E Zammarchi
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 25 Issue 4 Pg. 328-30 (Aug 2002) ISSN: 0141-8955 [Print] United States
• PMID: 12227467 (Publication Type: Journal Article)

Chemical References

• Amidohydrolases
• Biotinidase

Topics

• Amidohydrolases (deficiency)
• Amino Acid Substitution (genetics)
• Biotinidase
• DNA Mutational Analysis
• Humans
• Infant, Newborn
• Italy
• Mutation (genetics)
• Neonatal Screening