Genetic disorder in carbohydrates metabolism: hereditary fructose intolerance associated with celiac disease

Vol. 58 No. 3, 2017

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Daniela Pacurar, Gabriela Lesanu, Irina Dijmarescu, Iulia Florentina Tincu, Mihaela Gherghiceanu, Dumitru Oraseanu

Celiac disease (CD) has been associated with several genetic and immune disorders, but association between CD and hereditary fructose intolerance (HFI) is extremely rare. HFI is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase). We report the case of a 5-year-old boy suffering from CD, admitted with an initial diagnosis of Reye s-like syndrome. He presented with episodic unconsciousness, seizures, hypoglycemia, hepatomegaly and abnormal liver function. The patient has been on an exclusion diet for three years, but he still had symptoms: stunting, hepatomegaly, high transaminases, but tissue transglutaminase antibodies were negative. Liver biopsy showed hepatic steatosis and mitochondrial damage. The dietary history showed an aversion to fruits, vegetables and sweet-tasting foods. The fructose tolerance test was positive, revealing the diagnostic of hereditary fructose intolerance. Appropriate dietary management and precautions were recommended. The patient has been symptom-free and exhibited normal growth and development until 10 years of age.

Corresponding author: Iulia Florentina Tincu, MD, PhD Student; e-mail: if_boian@yahoo.com

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