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Article

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Journal of medical genetics - 1 Aug 1998

Sjarif D R, Sinke R J, Duran M, Beemer F A, Kleijer W J, Ploos van Amstel J K, Poll-The B T

Abstract excerpt

Isolated glycerol kinase deficiency (GKD) is an X linked recessive disorder. The clinical and biochemical picture may vary from a childhood metabolic crisis to asymptomatic adult "pseudohypertriglyceridaemia", the result of hyperglycerolaemia. We performed glycerol kinase (GK) gene analysis to study the molecular heterogeneity and genotype-phenotype correlation in eight males from three families with isolated...

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Identifiers

PMID: 9719371
DOI: 10.1136/jmg.35.8.650
PMCID: PMC1051390

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