Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
✍ Scribed by Lerner-Ellis, Jordan P; Tirone, Jamie C; Pawelek, Peter D; Doré, Carole; Atkinson, Janet L; Watkins, David; Morel, Chantal F; Fujiwara, T Mary; Moras, Emily; Hosack, Angela R
- Book ID
- 109916587
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 59 KB
- Volume
- 38
- Category
- Article
- ISSN
- 1061-4036
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Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B 12 metabolism. The aim of this work was to identify the mutational spectrum in a cohort of cblC-affected patients and the analysis of the cellular oxidative
## Abstract ## Background Methylmalonic aciduria is an autosomal recessive inborn error of the propionate metabolic pathway. One form of this disorder is caused by mutations in methylmalonyl‐coenzyme A mutase (MCM), resulting in reduced levels of enzyme activity. The pharmacological up‐regulation
Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin-bound cobalamin (holo-TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/CD320, the gene for the receptor for cellular uptake of holo-TC, identified a hom