TARUIS DISEASE
\tˈɑːɹuːˌiz dɪzˈiːz], \tˈɑːɹuːˌiz dɪzˈiːz], \t_ˈɑː_ɹ_uː_ˌi_z d_ɪ_z_ˈiː_z]\
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An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
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.