Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?

Eur J Pediatr. 1990 Feb;149(5):337-40. doi: 10.1007/BF02171561.

Abstract

The clinical and biochemical findings in an Italian sibship affected by carbonic anhydrase II deficiency are described. Evidence of clinical heterogeneity and an increased frequency of the disease in the Mediterranean area and the Middle East are discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acidosis, Renal Tubular / epidemiology
  • Acidosis, Renal Tubular / genetics
  • Adolescent
  • Africa, Northern / epidemiology
  • Brain Diseases, Metabolic / epidemiology
  • Brain Diseases, Metabolic / genetics
  • Calcinosis / epidemiology
  • Calcinosis / genetics
  • Carbonic Anhydrases / deficiency*
  • Carbonic Anhydrases / metabolism
  • Child, Preschool
  • Female
  • Heterozygote
  • Humans
  • Italy / epidemiology
  • Male
  • Middle East / epidemiology

Substances

  • Carbonic Anhydrases