Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Finland – earlier diagnosis and strict diets improve the survival rate and clinical course
Long-chain acyl-CoA dehydrogenase deficiency (LCHADD), a severe long-chain β-oxidation disorder which, without treatment, usually leads to death, is the most frequent β-oxidation disorder in Finland. Its typical manifestations are hypoketotic hypoglycemia, hepatopathy, failure to thrive, cardiomyopathy, and metabolic crisis during the first year of life. The long term complications are r...
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Public examination: 11.6.2016