Hyperammonaemia following exercise may also reveal PGK1 deficiency

J Clin Pathol. 2019 Jun;72(6):452. doi: 10.1136/jclinpath-2019-205750. Epub 2019 Mar 27.

Authors

Jean-Yves Hogrel¹, Isabelle Ledoux², Anthony Béhin³

Affiliations

¹ Neuromuscular Investigation Center, Institute of Myology, Paris, France jy.hogrel@institut-myologie.org.
² Neuromuscular Investigation Center, Institute of Myology, Paris, France.
³ Paris-Est Neuromuscular Center, Institute of Myology, University Hospital Pitié Salpêtrière, Paris, France.

PMID: 30918011
DOI: 10.1136/jclinpath-2019-205750

No abstract available

Keywords: diagnosis; metabolism; muscle; neuromuscular.

Publication types

Case Reports
Letter

MeSH terms

Aged
Exercise
Genetic Diseases, X-Linked / diagnosis*
Genetic Diseases, X-Linked / pathology
Humans
Hyperammonemia / diagnosis*
Hyperammonemia / pathology
Metabolism, Inborn Errors / diagnosis*
Metabolism, Inborn Errors / pathology
Phosphoglycerate Kinase / deficiency*
Phosphoglycerate Kinase / genetics

Substances

PGK1 protein, human
Phosphoglycerate Kinase

Supplementary concepts

Phosphoglycerate Kinase 1 Deficiency