Zouheir Habbal Mohammad, Bou Assi Tarek, Mansour Hicham
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
BMJ Case Rep. 2013 Apr 29;2013:bcr2012008491. doi: 10.1136/bcr-2012-008491.
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.
庞贝病的特征是酸性α-葡萄糖苷酶缺乏，导致肌肉中糖原异常沉积。黑尿症是由尿黑酸1,2-双加氧酶缺陷导致尿黑酸随后蓄积引起的。我们报告了一例6岁男孩被诊断患有庞贝病和黑尿症的病例。检测了尿有机酸和α-葡萄糖苷酶。通过桑格DNA测序对尿黑酸1,2-双加氧酶（HGO）和酸性α-葡萄糖苷酶（GAA）基因进行测序。白细胞中α-葡萄糖苷酶水平显著降低（4 nm/mg），而尿黑酸水平显著升高（15 027 mmol/mol肌酐）。GAA测序检测到两个杂合GAA突变（C.670C>T和C.1064T>C），而HGO测序分别在外显子4、5和6中发现了三个多态性。据我们所知，这是首次报道同一患者同时发生庞贝病和黑尿症的病例。
