Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.

doi:10.1016/j.nmd.2015.11.008

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Article

Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.

Neuromuscular disorders : NMD - 1 Mar 2016

Coppens Sandra, Koralkova Pavla, Aeby Alec, Mojzikova Renata, Deconinck Nicolas, Kadhim Hazim, van Wijk Richard

Abstract excerpt

We report two brothers with mild intellectual deficiency, exercise intolerance, rhabdomyolysis, seizures and no hemolysis. Phosphoglycerate kinase (PGK) activity was strongly decreased in their red blood cells. Subsequent molecular analysis of PGK1 revealed hemizygosity for a novel mutation c.756 + 3A > G, in intron 7. Analysis of the effect of this mutation on pre-mRNA processing demonstrated markedly decreased...

Topics

Adolescent
Genetic Diseases, X-Linked
Genotype
Hemolysis
Humans
Intellectual Disability
Male
Metabolism, Inborn Errors
Muscle, Skeletal
Mutation
Myoglobinuria
Phenotype
Phosphoglycerate Kinase
Seizures

Source

Open in PubMed

Identifiers

PMID: 26883264
DOI: 10.1016/j.nmd.2015.11.008

Genes

PGK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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