Isolated and contiguous glycerol kinase gene disorders: a review.

doi:10.1023/a:1005660826652

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Article

Isolated and contiguous glycerol kinase gene disorders: a review.

Journal of inherited metabolic disease - 1 Sept 2000

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

Abstract excerpt

Glycerol kinase deficiency (GKD) is an X-linked recessive disorder. There are two types. an isolated form and a complex form. We review the clinical, biochemical and molecular genetic features of GKD. The clinical and biochemical phenotype of isolated GKD may vary from a life-threatening childhood metabolic crisis to asymptomatic adult 'pseudohypertriglyceridaemia', resulting from hyperglycerolaemia. To date 38...

Topics

Adrenal Insufficiency
Amino Acid Sequence
Carbohydrate Metabolism, Inborn Errors
Genetic Linkage
Glycerol
Glycerol Kinase
Humans
Infant, Newborn
Molecular Sequence Data
Muscular Dystrophies
Mutation
Phenotype
X Chromosome

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Open in PubMed

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PMID: 11032329
DOI: 10.1023/a:1005660826652

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