Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (Carbonic Anhydrase-II Deficiency)

Carbonic anhydrase II deficiency syndrom

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

✍ Gul N. Shah; Giuseppe Bonapace; Peiyi Y. Hu; Pietro Strisciuglio; William S. Sly 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB

The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include developmental delay, short stature, cognitive defects, and a history of multiple fractures by adolescence.