Publications by authors named "Leticia Belmont-Matinez"
Clin Chim Acta
February 2020
Article Synopsis
- Isovaleric acidemia (IVA) is a metabolic disorder caused by a deficiency of isovaleryl-CoA dehydrogenase, leading to serious gastrointestinal and neurological symptoms that can result in long-term disability or death if not detected early.
- In a study involving 13 Mexican patients, common symptoms included vomiting, lethargy, and seizures, with mean levels of isovalerylcarnitine significantly above normal in symptomatic patients and newborns.
- The research revealed a complex genetic background with 14 variants in the IVD gene, showing a long diagnostic delay; thus, raising physician awareness and incorporating newborn screening with molecular analysis is crucial for effective management and early detection of this treatable condition.
