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.
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
S
S
Kure
D C
DC
Hou
Y
Y
Suzuki
A
A
Yamagishi
M
M
Hiratsuka
T
T
Fukuda
H
H
Sugie
N
N
Kondo
Y
Y
Matsubara
K
K
Narisawa
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