Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

Abstract

Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. Patients usually develop various combinations of nonspherocytic hemolytic anemia (NSHA), myopathy, and central nervous system disorders. In this national multicenter observational retrospective study, we recorded all known French patients with PGK deficiency, and 3 unrelated patients were identified. Case 1 was a 32-year-old patient with severe chronic axonal sensorimotor polyneuropathy resembling Charcot-Marie-Tooth (CMT) disease, mental retardation, microcephaly, ophthalmoplegia, pes cavus, and the new c.323G > A PGK1 hemizygous mutation. Case 2 was a 71-year-old patient with recurrent exertional rhabdomyolysis, and a c.943G > A PGK1 hemizygous mutation. Case 3 was a 48-year-old patient with NSHA, retinitis pigmentosa, mental retardation, seizures, stroke, parkinsonism, and a c.491A > T PGK1 hemizygous mutation. This study confirms that PGK deficiency is an extremely rare disorder with a wide phenotypic spectrum, and demonstrates for the first time that PGK deficiency may affect the peripheral nervous system and present as a CMT-like disorder.

• Authors: Andoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, Valérie Biancalana, Monique Piraud, Edoardo Malfatti, Pascal Laforêt
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 42 Issue 5 Pg. 803-808 (09 2019) ISSN: 1573-2665 [Electronic] United States
• PMID: 30887539 (Publication Type: Case Reports, Journal Article, Multicenter Study, Observational Study, Research Support, Non-U.S. Gov't)
• Copyright: © 2019 SSIEM.

Chemical References

• PGK1 protein, human
• Phosphoglycerate Kinase

Topics

• Adult
• Aged
• France
• Genetic Diseases, X-Linked (diagnosis, genetics)
• Humans
• Male
• Metabolism, Inborn Errors (diagnosis, genetics)
• Middle Aged
• Mutation
• Phosphoglycerate Kinase (deficiency, genetics)
• Retrospective Studies