title: Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.
abstract: 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.
authors: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. mh03@aub.edu.lb
authors: Mohammad
authors: M
authors: Zouheir Habbal
authors: Tarek
authors: T
authors: Bou Assi
authors: Hicham
authors: H
authors: Mansour
mesh_terms: D000474:Alkaptonuria / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
references: Metabolism. 2005 Jun;54(6):719-28
references: 15931605
references: J Pediatr. 2006 May;148(5):671-676
references: 16737883
references: J Chromatogr B Biomed Sci Appl. 1998 Nov 20;719(1-2):1-7
references: 9869358
references: Mol Genet Metab. 2011 Aug;103(4):307-14
references: 21620748
references: Mol Genet Metab. 2002 Apr;75(4):353-9
references: 12051967
references: J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S431-6
references: 19067231
references: Neurology. 1999 Mar 10;52(4):851-3
references: 10078739
references: Eur J Hum Genet. 1999 Sep;7(6):713-6
references: 10482961
references: Clin Chim Acta. 2010 Dec 14;411(23-24):2087-91
references: 20836999
references: N Engl J Med. 2002 Dec 26;347(26):2111-21
references: 12501223
references: J Inherit Metab Dis. 1998 Dec;21(8):791-8
references: 9870204
references: Am J Med Genet A. 2003 Sep 1;121A(3):225-30
references: 12923862
references: Clin Genet. 1978 Jun;13(6):504-10
references: 352582
references: Hum Mutat. 2004 Jan;23(1):47-56
references: 14695532
references: Acta Vitaminol Enzymol. 1981;3(3):157-69
references: 7347488
references: Ned Tijdschr Geneeskd. 1967 Jul 1;111(26):1152-5
references: 4227703