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Article

Mutations and phenotype in isolated glycerol kinase deficiency.

American journal of human genetics - 1 Jun 1996

Walker A P, Muscatelli F, Stafford A N, Chelly J, Dahl N, Blomquist H K, Delanghe J, Willems P J, Steinmann B, Monaco A P

Abstract excerpt

We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK mutations were detected in four patients with widely differing phenotypes. Patient 1 had a splice-site mutation causing premature termination. His general health was good despite absent GK activity, indicating that isolated GK deficiency can be silent. Patient 2 had GK deficiency and a...

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PMID: 8651297
PMCID: PMC1915081

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