Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile
| Autor: | Felipe Peñaloza, Felipe Falcon, Juan Francisco Cabello, Alicia de la Parra, María Florencia Salazar, Diana Ruffato, Carolina Arias, Verónica Cornejo, Gabriela Castro, Víctor Faundes, María Fernanda Medina |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
business.industry Maple syrup urine disease BCKDHB BCKDHA Urine medicine.disease 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) Endocrinology Maple Syrup Urine Disease Valine Internal medicine Metabolic control analysis Genetics medicine Humans Chile Isoleucine Leucine business Alleles Genetics (clinical) Retrospective Studies |
| Zdroj: | American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:373-380 |
| ISSN: | 1552-4876 1552-4868 |
| Popis: | Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched-chain alpha ketoacid dehydrogenase (BCKAD) enzymatic complex due to biallelic variants in the alpha (BCKDHA) or beta (BCKDHB) subunits or the acyltransferase component (DBT). Treatment consists in leucine (LEU), isoleucine (ILE), and valine (VAL) (branched-chain amino acids) dietary restriction and strict metabolic control. to determine the characteristics of the Chilean cohort with MSUD currently in follow-up at Instituto de Nutricion y Tecnologia de los Alimentos, during the 1990-2017 period Retrospective analytical study in 45 MSUD cases. Measured: biochemical parameters (LEU, ILE, and VAL), anthropometric evaluation, and neurocognitive development. In 18 cases undergoing genetic study were analyzed according to the gene and protein location, number of affected alleles, and type of posttranslational modification affected. Then, 45 patients with MSUD diagnosis were identified during the period: 37 were alive at the time of the study. Average diagnosis age was 71 ± 231 days. Average serum diagnosis LEU concentrations: 1.463 ± 854.1 μmol/L, VAL 550 ± 598 μmol/L and ILE 454 ± 458 μmol/L. BCKDHB variants explain 89% cases, while BCKDHA and DBT variants explain 5.5% of cases each. Variants p.Thr338Ile in BCKDHA, p.Pro240Thr and p.Ser342Asn in BCKDHB have not been previously reported in literature. Average serum follow-up LEU concentrations were 252.7 ± 16.9 μmol/L in the |
| Databáze: | OpenAIRE |
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