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J Inherit Metab Dis. 2019 Sep;42(5):803-808. doi: 10.1002/jimd.12087. Epub 2019 Apr 8.

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

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Department of Neurology, APHP, Bicêtre University Hospital, Le Kremlin Bicêtre, France.
French National Reference Center for Rare Neuropathies (NNERF), Le Kremlin Bicêtre, France.
INSERM U1195 & Paris-Sud University, Le Kremlin Bicêtre, France.
Neurology Department, Hôpital Pitié-Salpêtrière, Paris, France.
Laboratoire Diagnostic Génétique, CHR, Strasbourg, France.
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR 7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France.
Laboratoire des Maladies Héréditaires du Métabolisme et dépistage Néonatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.
Neurology Department, Hôpital Raymond Poincaré, Paris, France.


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.


PGK deficiency; PGK1 gene; myopathy; parkinsonism; polyneuropathy


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