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

被引：28

作者：

RIBES, A

RIUDOR, E

VALCAREL, R

SALVA, A

CASTELLO, F

MURILLO, S

DOMINGUEZ, C

ROTIG, A

JAKOBS, C

机构：

[1] CIUDAD SANITARIA SEGURIDAD SOCIAL VALLE HEBRON,HOSP MATERNO INFANTIL,BARCELONA,SPAIN

[2] HOSP MATERNO INFANTIL JUAN CANALEJO,LA CORUNA,SPAIN

[3] HOP NECKER ENFANTS MALAD,F-75730 PARIS 15,FRANCE

[4] FREE UNIV AMSTERDAM HOSP,DEPT PAEDIAT,AMSTERDAM,NETHERLANDS

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1993年 / 16卷 / 03期

关键词：

D O I：

10.1007/BF00711675

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Pearson syndrome (McKusick 260560) is a multisystem disorder of mitochondrial energy metabolism. Fatal outcome is widely reported and is usually 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 corneal opacity and hypoaldosteronism. In addition, altered Krebs' and urea-cycle metabolites were found.

引用

页码：537 / 540

页数：4

共 5 条

[1] MITOCHONDRIAL-DNA DELETION IN AN 8-YEAR-OLD BOY WITH PEARSON SYNDROME [J].