Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases
| Autor: | Esmeralda Martins, Laura Vilarinho, Clara Barbot, Esmeralda Rodrigues, Elisa Leão Teles, Altina Ramos, M. Luis Cardoso, Michael J. Bennett |
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| Rok vydání: | 2011 |
| Předmět: |
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medicine.medical_specialty Adolescent Consanguinity Disease Hypoglycemia Bioinformatics Polymorphism Single Nucleotide Young Adult Predictive Value of Tests Internal medicine Genetics medicine Humans Clinical significance Child Genetics (clinical) chemistry.chemical_classification business.industry 3-Hydroxyacyl CoA Dehydrogenases Infant Fatty acid medicine.disease 3-Hydroxyacyl-CoA Dehydrogenase Human genetics Pedigree Early Diagnosis Endocrinology chemistry Female business Hyperinsulinism Metabolism Inborn Errors |
| Zdroj: | Journal of Inherited Metabolic Disease. 34:835-842 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/s10545-011-9287-7 |
| Popis: | Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease. |
| Databáze: | OpenAIRE |
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