Hereditary fructose intolerance

Abstract

Hereditary fructose intolerance is a relatively rare metabolic disease due to a recessively transmitted deficiency of the enzyme fructose-1-phosphate aldolase, responsible for the metabolism of fructose in the liver and kidney. Vomiting and failure to thrive appear as soon as fructose is introduced into the diet. Within a short time liver dysfunction becomes evident, progressing to cirrhosis and portal hypertension. The renal involvement is characterized by signs of proximal tubular acidosis, type B. The reducing substance found in the urine is mainly fructose. Omitting fructose from the diet eliminates the symptoms. An infant with hereditary fructose intolerance, born to related parents of Iraqi origin, is presented. The enzyme deficiency was confirmed on liver biopsy. A sibling died at the age of three weeks with clinical and biochemical findings which suggested that he too had the same enzyme deficiency.