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

Highlights • Two brothers with recurrent rhabdomyolysis, mental retardation and seizures were reported. • There was markedly decreased PGK activity in red blood cells but no hemolysis. • DNA sequencing revealed a novel c.756 + 3A > G splice site mutation. • Multiple aberrant transcripts were iden...

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Published inNeuromuscular disorders : NMD Vol. 26; no. 3; pp. 207 - 210
Main Authors Coppens, Sandra, Koralkova, Pavla, Aeby, Alec, Mojzikova, Renata, Deconinck, Nicolas, Kadhim, Hazim, van Wijk, Richard
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.03.2016
Subjects
Adolescent
Genetic Diseases, X-Linked - complications
Genetic Diseases, X-Linked - diagnosis
Genetic Diseases, X-Linked - genetics
Genotype
Hemolysis
Humans
Intellectual Disability - complications
Male
Metabolic myopathy
Metabolism, Inborn Errors - complications
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - genetics
Muscle, Skeletal - pathology
Mutation
Myoglobinuria - complications
Neurology
PGK
Phenotype
Phosphoglycerate kinase
Phosphoglycerate Kinase - deficiency
Phosphoglycerate Kinase - genetics
Phosphoglycerate Kinase - ultrastructure
Seizures - complications
Siblings
Phosphoglycerate kinase
PGK
Metabolic myopathy
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Summary:Highlights • Two brothers with recurrent rhabdomyolysis, mental retardation and seizures were reported. • There was markedly decreased PGK activity in red blood cells but no hemolysis. • DNA sequencing revealed a novel c.756 + 3A > G splice site mutation. • Multiple aberrant transcripts were identified. • Comparison with other patients with similar mutations suggests a possible phenotype–genotype correlation.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ObjectType-Report-1
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ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2015.11.008