A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain
Journal of Clinical Medicine, ISSN: 2077-0383, Vol: 13, Issue: 12
2024
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JCM, Vol. 13, Pages 3394: A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain
JCM, Vol. 13, Pages 3394: A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain Journal of Clinical Medicine doi:
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New Findings from University of Agriculture in Krakow Describe Advances in Abdominal Pain [A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain]
2024 JUN 25 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Daily -- New research on abdominal pain is the subject
Article Description
Hereditary fructose intolerance is a rare genetic disorder that is inherited in an autosomal recessive manner, with mutations sometimes occurring spontaneously. Consuming fructose triggers biochemical abnormalities, disrupting liver processes like glycogenolysis and gluconeogenesis. Recent studies have revealed elevated intrahepatic fat levels in affected individuals. Symptoms include aversion to fructose-containing foods, hypoglycemia, liver and kidney dysfunction, and growth delays, with severe cases leading to liver enlargement, fatty liver disease, kidney failure, and life-threatening hypoglycemia. In this case study, we present a 20-month-old child with symptoms including difficulty passing stool, abdominal rigidity, abdominal pain with bloating and hypoglycemia. Initial clinical findings revealed elevated liver enzymes, a mildly enlarged hyperechoic liver, hypercholesterolemia, and borderline alpha-fetoprotein values. Diagnostic assessments identified hereditary fructose intolerance (HFI) with pathogenic variants in the ALDOB gene, along with a diagnosis of celiac disease. Genetic testing of the parents revealed carrier status for pathological aldolase B genes. This case underscores the importance of comprehensive clinical evaluation and genetic testing in pediatric patients with complex metabolic presentations.
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