WITHDRAWN: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

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Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.

Background: Chylomicronemia syndrome can be caused by 2 autosomal recessive disorders - lipoprotein lipase (LPL) deficiency and apolipoprotein C-II (apo C-II) deficiency.

Methods: We described 2 siblings with chylomicronemia syndrome of a consanguineous family. To determine the molecular basis of chylomicronemia syndrome in this family, we performed direct DNA sequencing of the LPL and APOC2 genes of the proband.

Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

We describe a Chinese patient with glycogen storage disease type 1b presenting with failure to thrive and protuberant abdomen. The neutropenia was mild and the patient did not have fasting hypoglycemia. Direct DNA sequencing of the G6PT1 gene revealed the patient to be a compound heterozygote of a novel missense mutation, Y24H, and another missense mutation, P191L, which we had described previously.