Carbonic anhydrase II deficiency a novel mutation.

Abstract

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.

• Authors: Sheela Nampoothiri, Yair Anikster
• Journal: Indian pediatrics (Indian Pediatr) Vol. 46 Issue 6 Pg. 532-4 (Jun 2009) ISSN: 0019-6061 [Print] India
• PMID: 19556665 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carbonic Anhydrase III

Topics

• Acidosis, Renal Tubular (diagnosis, enzymology, genetics)
• Brain Diseases, Metabolic, Inborn (diagnosis, enzymology, genetics)
• Calcinosis (diagnosis, enzymology, genetics)
• Carbonic Anhydrase III (deficiency, genetics)
• Child
• Genes, Recessive (genetics)
• Humans
• India
• Male
• Mutation, Missense (genetics)
• Osteopetrosis (diagnosis, enzymology, genetics)
• Pedigree
• Point Mutation
• Tomography, X-Ray Computed