[Fabry-Anderson disease: current state of knowledge].

Abstract

Fabry-Anderson disease is a lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase. This enzymatic defect results in the accumulation of glycosphingolipid into different lines cells. Usually the deficiency is complete, resulting in a multisystem disorder, with injury in different organs, predominantly heart, kidney and nervous system. However, in some patients the enzymatic deficit is partial and causes diverse clinical variants of the disease (renal or cardiac variety), this cause a difficult diagnostic and the absence of real epidemiology data. This review is about the epidemiology, the metabolic defect of this disease, it's molecular and genetics bases, the different forms of clinical presentation and the enzyme replacement therapy.

• Authors: Olynka Vega-Vega, Angélica Pérez-Gutiérrez, Ricardo Correa-Rotter
• Journal: Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion (Rev Invest Clin) 2011 May-Jun Vol. 63 Issue 3 Pg. 314-21 ISSN: 0034-8376 [Print] Mexico
• Vernacular Title: La enfermedad de Fabry-Anderson: estado actual del conocimiento.
• PMID: 21888295 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• alpha-Galactosidase
• alpha-N-Acetylgalactosaminidase

Topics

• Chromosomes, Human, X (genetics)
• Cohort Studies
• Endothelium, Vascular (enzymology)
• Enzyme Replacement Therapy
• Fabry Disease (diagnosis, drug therapy, enzymology, epidemiology, genetics)
• Humans
• Kidney (enzymology)
• Lysosomes (enzymology)
• Male
• Myocardium (enzymology)
• Organ Specificity
• Phenotype
• Randomized Controlled Trials as Topic
• alpha-Galactosidase (analysis, biosynthesis, genetics, therapeutic use)
• alpha-N-Acetylgalactosaminidase (therapeutic use)