FABRYS DISEASE
\fˈabɹɪz dɪzˈiːz], \fˈabɹɪz dɪzˈiːz], \f_ˈa_b_ɹ_ɪ_z d_ɪ_z_ˈiː_z]\
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Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.
By DataStellar Co., Ltd
Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.
Nearby Words
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