Article
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies.
Pediatric research - 1 Jul 1998
Martinez G, Garcia-Lozano J R, Ribes A, Maldonado M D, Baldellou A, de Pablo R, Nuñez-Roldan A
Abstract excerpt
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is recognized as the most common hereditary defect of fatty acid oxidation in humans. Death is the outcome of the first attack in about 25% of cases. A point mutation (A to G [corrected] at position 985) of the MCAD gene represents more than 9...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Alanine
- Alleles
- Gene Frequency
- Genetic Carrier Screening
- Genetic Variation
- Glycine
- Homozygote
- Lipid Metabolism, Inborn Errors
- Point Mutation
- Risk Factors
- Roma
- Spain