Title |
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, July 2013
|
DOI | 10.1186/1750-1172-8-102 |
Pubmed ID | |
Authors |
Maria Luz Couce, Paula Sánchez-Pintos, Luisa Diogo, Elisa Leão-Teles, Esmeralda Martins, Helena Santos, Maria Amor Bueno, Carmen Delgado-Pecellín, Daisy E Castiñeiras, José A Cocho, Judit García-Villoria, Antonia Ribes, José M Fraga, Hugo Rocha |
Abstract |
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 67% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 67% |
Members of the public | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | 1% |
Unknown | 93 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 19 | 20% |
Student > Master | 15 | 16% |
Researcher | 7 | 7% |
Student > Ph. D. Student | 7 | 7% |
Student > Doctoral Student | 6 | 6% |
Other | 16 | 17% |
Unknown | 24 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 19 | 20% |
Biochemistry, Genetics and Molecular Biology | 18 | 19% |
Agricultural and Biological Sciences | 12 | 13% |
Nursing and Health Professions | 5 | 5% |
Chemistry | 4 | 4% |
Other | 10 | 11% |
Unknown | 26 | 28% |