Glycogen storage disease type Ib without neutropenia.
We report 2 patients with atypical glycogen storage disease type Ib without neutropenia or infectious complications. Neither patient was deficient in hepatic glucose-6-phosphatase activities in microsome-disrupted homogenates; both had mutations in the glucose-6-phosphate transporter gene, suggesting an allelic variant of glycogen storage disease type Ib.
Kure
S
S
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Hou
D C
DC
Suzuki
Y
Y
Yamagishi
A
A
Hiratsuka
M
M
Fukuda
T
T
Sugie
H
H
Kondo
N
N
Matsubara
Y
Y
Narisawa
K
K
D000328:Adult; D002648:Child; D005952:Glucose-6-Phosphatase / Q000235:genetics / Q000378:metabolism*; D019298:Glucose-6-Phosphate / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009503:Neutropenia
D019298:Glucose-6-Phosphate; D005952:Glucose-6-Phosphatase