Fabry disease

A treatable lysosomal storage disorder

Shubha R. Phadke, Kausik Mandal, K. M. Girisha

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Fabry disease is a lysosomal storage disease with an X-linked inheritance pattern, which presents in childhood as acroparesthesias. Its non-specific symptoms often lead to delays in the diagnosis. We report the case of a 13-year-old boy who presented with typical acroparaesthesia of Fabry disease, his younger brother had gastrointestinal manifestations of the disease and their mother's symptoms suggested that she is a carrier. Enzyme replacement therapy helped in ameliorating the patient's symptoms and preventing complications such as renal failure, stroke and cardiovascular disorders.

Original languageEnglish
Pages (from-to)20-22
Number of pages3
JournalNational Medical Journal of India
Volume22
Issue number1
Publication statusPublished - 2009

Fingerprint

Fabry Disease
Lysosomal Storage Diseases
Enzyme Replacement Therapy
Inheritance Patterns
X-Linked Genes
Gastrointestinal Diseases
Renal Insufficiency
Siblings
Myocardial Infarction
Mothers

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Phadke, Shubha R. ; Mandal, Kausik ; Girisha, K. M. / Fabry disease : A treatable lysosomal storage disorder. In: National Medical Journal of India. 2009 ; Vol. 22, No. 1. pp. 20-22.
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Fabry disease : A treatable lysosomal storage disorder. / Phadke, Shubha R.; Mandal, Kausik; Girisha, K. M.

In: National Medical Journal of India, Vol. 22, No. 1, 2009, p. 20-22.

Research output: Contribution to journalArticle

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