Contribution of clinical screening to carrier detection in a large Chinese family with fabry disease due to a novel alpha-galactosidase A gene deletion

L. S. Ro, C. M. Chen, H. S. Chang, R. K. Lyu, Y. R. Wu, W. C. Hsu, Guey-Jen Lee

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7 Citations (Scopus)


Diagnosis of heterozygous Fabry patients is difficult because of its variable clinical manifestations and overlapping serum α-galactosidase A (AGA) activity between carriers and non-carriers. We tried to facilitate diagnosis of heterozygous Fabry patients by detailed clinical examination. We analyzed clinical presentations, biochemical, electrophysiological and genetic characteristics of 16 patients with Fabry disease in a large Chinese family. Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients. Interestingly, all the males and females had corneal verticilata by slit lamp examination. However, there was no association of serum AGA activity with renal function or pain symptom scores. The results indicated that detailed ocular and neurological examination might provide an alternative way of detecting heterozygous patients. We also report a novel large deletion spanning across the joint of Alu repetitive elements in introns 1 and 2 with resultant exon 2 deletion in a Chinese family with Fabry disease.

Original languageEnglish
Pages (from-to)493-497
Number of pages5
JournalEuropean Journal of Neurology
Issue number5
Publication statusPublished - 2007 May 1



  • Acroparesthesia
  • Alpha-galactosidase A deficiency
  • Angiokeratoma
  • Corneal verticilata
  • Fabry disease
  • Hypohidrosis
  • Lysosomal disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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