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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification
New England Journal of Medicine, Volume 313, No. 3, Year 1985
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Description
Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 1972. In 1983, we reported a deficiency of carbonic anhydrase II, one of the isozymes of carbonic anhydrase, in three sisters with this disorder. We now describe our study of 18 similarly affected patients with this syndrome in 11 unrelated families of different geographic and ethnic origins. Virtual absence of the carbonic anhydrase II peak on high-performance liquid chromatography, of the esterase and carbon dioxide hydratase activities of carbonic anhydrase II, and of immunoprecipitable isozyme II was demonstrated on extracts of erythrocyte hemolysates from all patients studied. Reduced levels of isozyme II were found in obligate heterozygotes. These observations demonstrate the generality of the findings that we reported earlier in one family and provide further evidence that a deficiency of carbonic anhydrase II is the enzymatic basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. We also summarize the clinical findings in these families, propose mechanisms by which a deficiency of carbonic anhydrase II could produce this metabolic disorder of bone, kidney, and brain, and discuss the clinical evidence for genetic heterogeneity in patients from different kindreds with this inborn error of metabolism. (N Engl J Med 1985; 313:139–45.). © 1985, Massachusetts Medical Society. All rights reserved.
Authors & Co-Authors
Sly, William S.
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Whyte, Michael P.
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Sundaram, Vasantha
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Tashian, Richard E.
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Hewett-Emmett, David
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Guibaud, Pierre
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Vainsel, Marc
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Baluarte, H. Jorge
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Gruskin, Alan
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
al-Mosawi, M.
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Sakati, Nadia A.
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Ohlsson, Arne
United States, St. Louis
St. Louis University School of Medicine
United States, St. Louis
Washington University School of Medicine in St. Louis
United States, Ann Arbor
University of Michigan Medical School
France, Lyon
Hopital Debrousse
Belgium, Brussels
Centre Hospitalier Universitaire Saint Pierre, Brussels
United States, Philadelphia
St. Christopher's Hospital for Children Philadelphia
Kuwait
Amire Hospital
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 303
Authors: 12
Affiliations: 8
Identifiers
Doi:
10.1056/NEJM198507183130302
ISSN:
00284793
e-ISSN:
15334406
Research Areas
Environmental
Genetics And Genomics
Noncommunicable Diseases