45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure, late complications of propionic acidemia?

被引：22

作者：

Lam, Christina ^{[1
,3
]}

Desviat, Lourdes R. ^{[4
]}

Perez-Cerda, Celia ^{[4
]}

Ugarte, Magdalena ^{[4
]}

Barshop, Bruce A. ^{[5
]}

Cederbaum, Stephen ^{[1
,2
,3
]}

机构：

[1] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA 90095 USA

[3] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA

[4] Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol CEDEM, CIBERER, E-28049 Madrid, Spain

[5] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2011年 / 103卷 / 04期

关键词：

Propionic acidemia; Methylmalonic acidemia; Renal failure; Mitochondria dysfunction; Electron transport chain; Premature ovarian failure; METHYLMALONIC ACIDEMIA; DEFICIENCY; MUTATION; ACIDURIA; UPDATE;

D O I：

10.1016/j.ymgme.2011.04.007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a 45-year-old patient who was diagnosed with propionic acidemia in infancy, who experienced an unstable first two years of life but who eventually had a good developmental outcome. She developed severe renal failure requiring renal transplantation in her forties and premature ovarian failure. Renal failure and premature ovarian failure have not previously been associated with propionic acidemia. We hypothesize that propionic acidemia may have contributed to these complications, and discuss several possible mechanisms for this, emphasizing mainly the electron transport chain/mitochondrial energy deficiency hypothesis. Published by Elsevier Inc.

引用

页码：338 / 340

页数：3

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