Carbonic anhydrase II (CA II) is the only soluble isozyme of CA which is known to be
expressed in kidney. We recently identified a deficiency of this enzyme as the basis for the …

Four new Saudi Arabian cases of the carbonic anhydrase II deficiency syndrome from two
families are described. This autosomal recessive syndrome includes osteopetrosis with …

Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive
disease with cardinal features including osteopetrosis, renal tubular acidosis and brain …

We report three new Kuwaiti patients with carbonic anhydrase II deficiency (CA II) from two
unrelated families. Each patient had osteopetrosis, distal renal tubular acidosis, and …

Since osteopetrosis (marble bone disease) was first described by Albers-Schonberg in
1904, over 300 cases have been reported. 5 An autosomal dominant form, the adult, benign …

Autosomal recessive “malignant” osteopetrosis is a rare congenital disorder of bone
resorption. It is caused by the failure of osteoclasts to resorb immature bone. 1–3 This leads …

Abstract Carbonic anhydrase II (CA II) is one of 14 isozymes of carbonic anhydrases, zinc
metalloenzymes that catalyze the reversible hydration of carbon dioxide to bicarbonate …

Renal tubular acidosis with osteopetrosis is an autosomal recessive disorder due to
deficiency of carbonic anhydrase II (CAII). A 3.5-year-old Egyptian boy with osteopetrosis …

Carbonic anhydrase (CA) II deficiency is characterized by osteopetrosis, renal tubular
acidosis, cerebral calcification, and usually severe mental retardation. We describe an …

To date, three different structural gene mutations have been identified in patients with
carbonic anhydrase II deficiency (osteopetrosis with renal tubular acidosis and cerebral …