Carbonic Anhydrase II Deficiency Syndrome

Clinical Delineation, Interpretation, and Implications
  • William S. Sly


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 form, has a relatively benign course and is compatible with a normal life span. The clinically more severe, autosomal recessive, “malignant, lethal” form has its onset in infancy and produces anemia, leukopenia, hepatomegaly, failure to thrive, cranial nerve symptoms, and early death. Intermediate forms have also been described.


Carbonic Anhydrase Proximal Tubule Deficiency Syndrome Renal Tubular Acidosis Carbonic Anhydrase Activity 
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Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • William S. Sly
    • 1
  1. 1.Department of Biochemistry and Molecular BiologySt. Louis University School of MedicineSt. LouisUSA

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