P771: Prenatal identification of pyruvate dehydrogenase E-1 alpha deficiency: A case report

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Cristian Ruiz Burgos, Diana Sterling-Castaño, Paola Sánchez Romero, Mariana Guerra
DOI: 10.1016/j.gimo.2026.104263
Cited by: 0

Abstract

Timely diagnosis allowed for appropriate genetic counseling to the family, focusing on the diagnosis of the current pregnancy and strategies for future preconception management. Furthermore, it facilitated the establishment of follow-up for the affected patient, aiming to prevent metabolic crises and assess residual enzymatic activity.

Fields of Study & Subjects

Metabolism and Genetic Disorders Biochemical Acid Research Studies Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104263–104263
Publication date
1 January 2026
Language
EN