Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Andoni Echaniz-LagunaYann NadjarAnthony BéhinValérie BiancalanaMonique PiraudEdoardo MalfattiPascal LaforêtPublished in: Journal of inherited metabolic disease (2019)
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.
Keyphrases
- end stage renal disease
- chronic kidney disease
- ejection fraction
- newly diagnosed
- case report
- cross sectional
- spinal cord injury
- mental health
- autism spectrum disorder
- genome wide
- clinical trial
- atrial fibrillation
- zika virus
- dna methylation
- acute kidney injury
- protein kinase
- parkinson disease
- blood brain barrier
- transcription factor
- heat stress
- patient reported
- optical coherence tomography