Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency

Abstract

This presentation highlights a previously unreported but significant clinical complication of this disorder and emphasizes the persistent risk of excessive salt loss via sweat and a need for certain precautions, such as increased salt intake and avoidance of prolonged and/or strenuous exercise.

The Human Carbonic Anhydrase II in Platelets: An Underestimated Field of Its Activity

“…The carbonic anhydrase VA deficiency may present as early-onset liver failure with hyperammonemia, hyperlactatemia, and ketonuria [ 13 ]. CAXII deficiency may promote hyponatremic dehydration and rhabdomyolysis after intense physical exercises [ 14 ]. The effectiveness of carbonic anhydrase may be also altered by autoantibodies.…”

New Histamine-Related Five-Membered N-Heterocycle Derivatives as Carbonic Anhydrase I Activators

“…In fact, small polar molecules, such as amino acids and endogenous or synthetic amines, are able to increase the catalytic turnover of these enzymes [2]. Moreover, deficiencies of some human isoforms have been associated with the outbreak of pathological conditions, such as retinal degeneration, osteopetrosis, hyperammonemia, hyponatremia, hyperchlorhydrosis and cystic fibrosis [3][4][5][6][7][8][9], and CA activation has been shown to increase memory [10,11] and bone mineralization [12]. Therefore, various therapeutic applications can be envisaged for CAAs, provided these molecules are endowed with isoform selectivity.…”