Two cases of Fabry disease identified in brothers

  title={Two cases of Fabry disease identified in brothers},
  author={Ji Eun Cho and Yong Hee Hong and Yang Gyun Lee and Han-Wook Yoo and Dong Hwan Lee},
  journal={Korean Journal of Pediatrics},
= Abstract = Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the -galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia α and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation. (Korean J Pediatr 2010;53:235-238) 
1 Citations

Lysosomal Storage Disorders

  • H. Meng
  • Medicine
    Self-Assessment Questions for Clinical Molecular Genetics
  • 2019



Fabry disease: a review.

Fabry disease in children and the effects of enzyme replacement treatment

In two clinical trials of enzyme replacement therapy (ERT) with agalsidase alfa, including 37 children, boys demonstrated reductions in plasma Gb3 levels, and both boys and girls reported reductions in neuropathic pain and in the use of neuropathicPain medications.

Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

FABRY'S disease is a hereditary systemic disorder that was first recognized in affected males as a disease characterized by multiple small dark-purple macules and papules in the umbilical region, s...

Fabry disease in childhood.

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352 Fabry Registry patients, and many pediatric Fabry patients report early symptoms, particularly pain, gastrointestinal symptoms, and impaired quality of life.

Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease.

Skin lesion biopsy specimens were stained with electron microscopic acid phsophatase, and acid phosphatase activity was demonstrable within membrane-bound inclusions of cutaneous vascular endothelial cells, suggesting that the accumulation of abnormal glycolipids in the vascular cells occurs in the lysosomes.

Angiokeratoma corporis diffusum – Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy

  • H. Fabry
  • Medicine
    Acta paediatrica (Oslo, Norway : 1992). Supplement
  • 2002
A succession of observations and pioneering clinical research over the past 100 years has led to the present understanding of Fabry disease, as are the major milestones during this time.

Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.

It is concluded that hearing loss involving all frequency regions significantly contributes to morbidity in patients with Fabry disease and a correlation of neuropathic and vascular damage with hearing loss in the males is suggested.

Prevalence of lysosomal storage disorders.

There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period, and as a group, they are relatively common and represent an important health problem in Australia.