PEARSON SYNDROME - ALTERED TRICARBOXYLIC-ACID AND UREA-CYCLE METABOLITES, ADRENAL INSUFFICIENCY AND CORNEAL OPACITIES

Authors
RIBES A RIUDOR E VALCAREL R SALVA A CASTELLO F MURILLO S DOMINGUEZ C ROTIG A JAKOBS C
Citation
A. Ribes et al., PEARSON SYNDROME - ALTERED TRICARBOXYLIC-ACID AND UREA-CYCLE METABOLITES, ADRENAL INSUFFICIENCY AND CORNEAL OPACITIES, Journal of inherited metabolic disease, 16(3), 1993, pp. 537-540
Citations number
5
Categorie Soggetti
Endocrynology & Metabolism
Journal title
Journal of inherited metabolic disease → ACNP
ISSN journal
01418955
Volume
16
Issue
3
Year of publication
1993
Pages
537 - 540
Database
ISI
SICI code
0141-8955(1993)16:3<537:PS-ATA>2.0.ZU;2-M
Abstract
Pearson syndrome (McKusick 260560) is a multisystem disorder of mitoch ondrial energy metabolism. Fatal outcome is widely reported and is usu ally related to liver failure (Rotig et al 1990). We describe the case of a 3-year-old boy with Pearson syndrome but with normal pancreatic, hepatic and renal function. Furthermore, he presents bilateral cornea l opacity and hypoaldosteronism. In addition, altered Krebs' and urea- cycle metabolites were found.