Peptic ulceration and phenylketonuria: a possible link?

Abstract

We report five cases of peptic ulceration in patients with classical phenylketonuria and suggest that there may be a causal relationship between the two conditions. Peptic ulceration is a relatively uncommon disorder of children and young adults.' Of the 180 patients with phenylketonuria (PKU) in Northern Ireland who have been diagnosed since 1954, five are known to have developed peptic ulceration which presented between 11 and 25 years of age. Two presented with haematemesis, one with perforation, one with melaena and one with abdominal pain and vomiting. None was on a strict diet at the time of presentation and plasma phenylalanine concentrations were high. Four were not receiving supplements of amino acids. Case histories PATIENT 1 This mentally retarded woman lives at home and attends a day centre. Phenylketonuria was diagnosed when she was 10 months old. At the age of 21 years she was admitted to hospital with haematemesis requiring blood transfusion. There was a history of epigastric pain at night for 12 months and vomiting for six months. At the time of her admission she was on a protein restricted diet and an amino acid supplement as treatment for her PKU. On barium meal there was considerable increase in the amount of resting juice, with deformity, spasm and a small ulcer crater in the duodenal cap.