Carbonic anhydrase Ii deficiency a novel mutation
Nampoothiri, S.; Anikster, Y.
Indian Pediatrics 46(6): 532-534
2009
ISSN/ISBN: 0019-6061 PMID: 19556665 Document Number: 631983
Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12 year old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our knowledge this is the first case report of mutation proven CA II deficiency from India.