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Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Author(s) -
EchanizLaguna Andoni,
Nadjar Yann,
Béhin Anthony,
Biancalana Valérie,
Piraud Monique,
Malfatti Edoardo,
Laforêt Pascal
Publication year - 2019
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12087
Subject(s) - phosphoglycerate kinase , medicine , microcephaly , polyneuropathy , retinitis pigmentosa , pediatrics , myopathy , micronutrient deficiency , ataxia , metabolic disorder , genetics , biology , psychiatry , gene , malnutrition , retinal , ophthalmology
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.