Çocuk Sağlığı ve Hastalıkları Dergisi
2014 , Vol 57 , Num 2
Hypercalcemia as a new marker for poor metabolic control in patients with type I glycogen storage disease
Keçiören Eğitim ve Araştırma Hastanesi Pediatri Doçenti
İletişim: kiliçkorkmaz@yahoo.com.tr
Glycogen storage disease (GSD) type Ib is an autosomal recessive disease
caused by deficiency of glucose-6-phosphate translocase. We present here
a five-month-old infant with GSD type Ib presented with neutropenia and
classical features accompanied with hypercalcemia in the first and recurrent
attacks. A homozygous mutation c1211_1212delCT in the G6PT (SLC37A4)
gene confirmed the diagnosis. We suggest that hypercalcemia may be used
as a new marker to demonstrate poor metabolic control in patients with
GSD type Ib. GSD type I should be considered in the differential diagnosis
of prolonged hypoglycemia in the newborn period.
Anahtar Kelimeler :
glikojen depo hastalığı tip Ib, hiperkalsemi, metabolik bozulma,
nötropeni, hipoglisemi.