Diseases Fabry

Arglnlnos ucclnlc aciduria Cystlnosls Fabry disease... 

Thrombolytic agent Thrombolytic agent Anticoagulant Haemophilia B Anti-cancer agent Cystic fibrosis Gaucher s disease Fabry disease Hyperuricaemia Mucopolysaccharidosis Oxygen toxicity Pompe disease... 

Schiffmann, R., Floeter, M. K., Dambrosia, J. M. et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28 703-710, 2003. 

Enzyme replacement Gaucher s disease, Fabry disease, and mucopolysaccharidosis Cerezyme, Fabrazyme, Aldurazyme... 

Fabry disease a-Galactosidase A Hydrolysis of the lipid, globotria-osylceramide Severe fatigue, painful paresthesias (numbness and tingling) of the feet and arms, purplish skin lesions on abdomen and buttocks Accumulation of globotriaosylcer-amide in endothelial cells of the blood vessels, altered cellular structure of heart and glomeruli, renal failure... 

X-hnked recessive disorders are also caused by hemophiha, mutations in genes on the X chromosome. Fabry disease Males are more frequently affected than females, and the chance of passing on the disorder differs between men and women. 

Menkes, D.L. (1999) Images in neurology. The cutaneous stigmata of Fabry disease an X-linked phakomatosis associated with central and peripheral nervous system dysfunction. Arch Neurol 56 487. 

For the measurement of a-iduronidase activity, a novel substrate was developed that was detected by mass spectrometry. It was possible to combine this method with similar assays for Niemann-Pick type A/ , Krabbe, Gaucher, Pompe, and Fabry disease. However, separate incubation is necessary, and some additional work-up procedures are usually required to purify the sample before mass spectrophotomet-ric analysis [68]. 

Fabry disease is an X-linked disorder and accurate carrier detection is important for genetic counseling and because enzyme therapy is available for clinically affected hemizygote and heterozygote patients. Because of random X-inactivation, not all heterozygotes can be reliably identified by enzyme assay, and mutation analysis is strongly recommended. 

Chamoles NA, Blanco M, Gaggioli D (2001) Fabry disease enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 308 195-196... 

Degradation of sphingolipids showing the enzymes missing in related genetic diseases, the sphingolipidoses. All of the diseases are autosomal recessive except Fabry disease which is X-linked, and all can be fatal in early life. (Cer = ceramide). 

In the cases of Gaucher disease and Fabry disease, it is hoped that treatment of infants and young children may prevent brain damage. However, in Tay-Sachs disease the primary sites of accumulation of the ganglioside GM2 are the ganglion and glial cells of the brain. Because of the "blood-brain barrier" and the severity of the damage it seems less likely that the disease can be treated successfully. 

MALDI has also been applied to quantify biological material.214,215 This approach was first used to investigate serum glycolipids.216 Sulfatides were quantified using MALDI-TOF which proved to be sensitive and reliable. More recently, the levels of sphingolipids from cardiac valves of patients with Fabry disease were quantified similarly.217... 

T. Fujiwaki, M. Tasaka, N. Takahashi, H. Kobayashi, Y. Murakami, T. Shimada, and S. Yamaguchi, Quantitative evaluation of sphingolipids using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to cardiac valves from a patient with Fabry disease, J. Chromatogr. B. 832 (2006) 97-102. 

Breunig, F., Weidemann, F., Beer, M., Eggert, A., Krane, V., Spindler, M., Sandstede, J., Strotmann, J. and Wanner, C. (2003). Fabry disease Diagnosis and treatment. Kidney Int. 84(Suppl.), S181-S185. 

Takahashi, H., Hirai, Y., Migita, M., Seino, Y., Fukuda, Y., Sakuraba, H., Kase, R., Kobayashi, T., Hashimoto, Y. and Shimada, T. (2002). Longterm systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer. Proc. Natl. Acad. Sci. USA 99, 13777-13782. 

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