Home Latest news Hereditary Fructose Intolerance Diagnosed in a Patient with Abdominal Pain

Hereditary Fructose Intolerance Diagnosed in a Patient with Abdominal Pain

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Hereditary fructose intolerance is a rare genetic disorder that is inherited in an autosomal recessive manner, with mutations sometimes occurring spontaneously. This rare disease it with ICD-10 code: E74.1 and ORPHA code: 469. 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.

In this case study a 20-month-old child with symptoms including difficulty passing stool, abdominal rigidity, abdominal pain with bloating and hypoglycemia is presented. Initial clinical findings reveal elevated liver enzymes, a mildly enlarged hyperechoic liver, hypercholesterolemia, and borderline alpha-fetoprotein values. Diagnostic assessments identify hereditary fructose intolerance  with pathogenic variants in the ALDOB gene, along with a diagnosis of celiac disease. Genetic testing of the parents reveals 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. Read the full article here.

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