Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
J Inherit Metab Dis
; 42(5): 803-808, 2019 09.
Article
em En
| MEDLINE
| ID: mdl-30887539
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.
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Base de dados:
MEDLINE
Assunto principal:
Fosfoglicerato Quinase
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Doenças Genéticas Ligadas ao Cromossomo X
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Erros Inatos do Metabolismo
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article