A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.
We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.
Martens
D H J
DH
Department of Metabolic Disease, Beatrix Children's Hospital, PO Box 30001, 9700 RB Groningen, The Netherlands. d.h.j.martensj@bkk.umcg.nl
Kuijpers
T W
TW
Maianski
N A
NA
Rake
J P
JP
Smit
G P A
GP
Visser
G
G
D000293:Adolescent; D017920:Antiporters / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008099:Liver / Q000201:enzymology; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D009154:Mutation; D009503:Neutropenia / Q000175:diagnosis* / Q000235:genetics*; D009504:Neutrophils / Q000378:metabolism / Q000473:pathology*; D010641:Phenotype
D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C111261:glucose 6-phosphate(transporter)