Application | Comment | Organism |
---|---|---|
medicine | severe case of mevalonate kinase deficiency associated with nephritis. Patient is homozygous for mutation G336S, catalytic activity of the mutant enzyme is less than 1% of wild-type activity. Laboratory data obtained in a period of well-being show increased values of markers of inflammation, severe anemia, and high serum IgA values. Serum autoantibodies are undetectable. Treatment with interleukin 1 receptor antagonist anakinra resulted in normalization of the C-reactive protein, a rise in the hemoglobin value, and disappearance of proteinuria. Hematuria disappeared after 2 months of treatment | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G336S | homozygous mutation determined in a patient with severe deficiency in mevalonate kinase associated with nephritis. Catalytic activity is less than 1% of wild-type activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patient wih mevalonate kinase deficiency | - |