Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.
Mol Genet Metab Rep
; 21: 100537, 2019 Dec.
Article
em En
| MEDLINE
| ID: mdl-31844627
ABSTRACT
Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic decompensation and another with cardiogenic shock. PA can present with life-threatening metabolic decompensation or an adult-onset severe cardiomyopathy. We discuss critical clinical implications of this observation.
Texto completo:
1
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article