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Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.

Abstract
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.
AuthorsMelanie Cotter, Thomas Connell, Eric Colhoun, Owen P Smith, Corrina McMahon
JournalJournal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 27 Issue 2 Pg. 115-7 (Feb 2005) ISSN: 1077-4114 [Print] United States
PMID15701991 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Carbonic Anhydrase II
Topics
  • Acidosis, Renal Tubular (etiology, genetics)
  • Brain (pathology)
  • Calcinosis
  • Carbonic Anhydrase II (deficiency)
  • Humans
  • Infant
  • Male
  • Osteopetrosis (etiology, genetics)

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