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Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis
  1. Mohammad Zouheir Habbal1,
  2. Tarek Bou Assi1,
  3. Hicham Mansour2
  1. 1Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
  2. 2Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon
  1. Correspondence to Professor Mohammad Zouheir Habbal, mh03{at}


Pompe disease is characterised by deficiency of acid α-glucosidase that results in abnormal glycogen deposition in the muscles. Alkaptonuria is caused by a defect in the enzyme homogentisate 1,2-dioxygenase with subsequent accumulation of homogentisic acid. We report the case of a 6-year-old boy diagnosed with Pompe disease and alkaptonuria. Urine organic acids and α-glucosidase were measured. Homogentisate 1,2-dioxygenase (HGO) and acid alpha-glucosidase (GAA) genes were sequenced by Sanger DNA sequencing. The level of α-glucosidase in white blood cells was markedly decreased (4 nm/mg) while the level of homogentisic acid was markedly increased (15 027 mmol/mol creatine). GAA sequencing detected two heterozygous GAA mutations (C.670C>T and C.1064T>C) while HGO sequencing revealed three polymorphisms in exons 4, 5 and 6, respectively. To the best of our knowledge, this is the first reported instance of Pompe disease and alkaptonuria occurring in the same individual.

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