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

P Strisciuglio; R Sartorio; C Pecoraro; F Lotito; W S Sly

doi:10.1007/BF02171561

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

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

Authors

P Strisciuglio¹, R Sartorio, C Pecoraro, F Lotito, W S Sly

Affiliation

¹ Department of Paediatrics, II Facolta di Medicina, Naples, Italy.

PMID: 2107079
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