Article
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
Neurology - 11 Sept 2018
Vissing John, Akman H Orhan, Aasly Jan, Kahler Stephen G, Bacino Carlos A, DiMauro Salvatore, Haller Ronald G
Abstract excerpt
OBJECTIVE: To study the variable clinical picture and exercise tolerance of patients with phosphoglycerate kinase (PGK) 1 deficiency and how it relates to residual PGK enzyme activity. METHODS: In this case series study, we evaluated 7 boys and men from 5 families with PGK1 deficiency. Five had pure muscle symptoms, while 2 also had mild intellectual disability with or without anemia. Muscle glycolytic and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.