Literature summary for 2.7.1.36 extracted from

Nevyjel, M.; Pontillo, A.; Calligaris, L.; Tommasini, A.; DOsualdo, A.; Waterham, H.R.; Granzotto, M.; Crovella, S.; Barbi, E.; Ventura, A.
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency (2007), Pediatrics, 119, e523-e527.

Search for more literature for 2.7.1.36

Application

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

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

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patient wih mevalonate kinase deficiency	-

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Release 2023.1 (January 2023)