Abstract
Two men aged 36 and 38 years, both with osteosclerosis, renal tubular acidosis, symmetric cerebral calcification of basal ganglia and cerebellum, and hypoparathyrpidism were diagnosed as having carbonic anhydrase II (CA II) deficiency. Biochemical and immunological eveidence confirmed the deagnosis, showing that they had a virtual absence of CA II in their erythrocytes. CA II activity as tested by Maren's method was almost totally absent in the patient's erythrocyte hemolysates. CA II prptein levels in the hemolysates were undetectable by radial immunodefusion testing. Their parents, who were asymptomatic heterozygotes, exhibited about half th normal enzyme protein level of CA II.
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