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Carbonic anhydrase II deficiency a novel mutation

Sheela Nampoothiri1, Yair Anikster

  • 1Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara, PO, Cochin, Kerala, India; and Metabolic Disease Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel. sheelaknpn@yahoo.co.in

Indian Pediatrics
|June 27, 2009
PubMed
Summary

Carbonic anhydrase II (CA II) deficiency, a rare genetic disorder, presents with bone, kidney, and brain issues. This report details the first mutation-proven case in India, confirmed by genetic analysis in a young patient.

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