Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency

C Cavicchi; M A Donati; E Pasquini; G M Poggi; C Dionisi-Vici; R Parini; E Zammarchi; A Morrone

doi:10.1007/s10545-005-0191-x

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency

J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x.

Authors

C Cavicchi¹, M A Donati, E Pasquini, G M Poggi, C Dionisi-Vici, R Parini, E Zammarchi, A Morrone

Affiliation

¹ Metabolic Unit, Department of Pediatrics, University of Florence, Florence, Italy.

PMID: 16435223
DOI: 10.1007/s10545-005-0191-x

Abstract

We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125-1G >A), one small deletion (c.1758-1759delA) and nine previously described mutations identified in 10 unrelated Italian patients affected by mut MMA.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alleles
Child
Child, Preschool
Codon
DNA Mutational Analysis / methods*
DNA, Complementary / metabolism
Female
Heterozygote
Homozygote
Humans
Infant
Italy
Lysine / chemistry
Metabolism, Inborn Errors / diagnosis*
Metabolism, Inborn Errors / genetics*
Methylmalonyl-CoA Mutase / deficiency*
Methylmalonyl-CoA Mutase / genetics*
Mutation
Prenatal Diagnosis / methods*

Substances

Codon
DNA, Complementary
Methylmalonyl-CoA Mutase
Lysine