Home Carbonic Anhydrase II deficiency

Carbonic Anhydrase II deficiency

Defining Characteristics

Renal tubular acidosis, cerebral calcifications, hypotonia, weakness, mental subnl
Phenotype less severe w/ age

Disease Development

Mutation in CAII renders the cell unable to generate protons from CO2 and H2O, causing loss of osteoclast resorptive function and generalized disease

Potential Causes

Bone overgrowth due to loss of osteoclast resorptive fx

Risk factors

Autosomal recessive


UA – check for RTA
Measured in erythrocytes