Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.
The authors present a case of osteopetrosis due to carbonic anhydrase II deficiency. Clinical, laboratory and radiologic findings are reported. The genetics of osteopetrosis are reviewed.
Cotter
Melanie
M
Department of Hematology, Children's University Hospital, Dublin, Ireland. Melanie.Cotter@tsch.ie
Connell
Thomas
T
Colhoun
Eric
E
Smith
Owen P
OP
McMahon
Corrina
C
D000141:Acidosis, Renal Tubular / Q000209:etiology* / Q000235:genetics; D001921:Brain / Q000473:pathology*; D002114:Calcinosis; D024402:Carbonic Anhydrase II / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D010022:Osteopetrosis / Q000209:etiology* / Q000235:genetics
D024402:Carbonic Anhydrase II