The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency

Kasapkara C. S., AYCAN Z., Acoglu E., Senel S., Oguz M. M., Ceylaner S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.30, sa.4, ss.459-462, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1515/jpem-2016-0317
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.459-462
  • Anahtar Kelimeler: children, glycogen synthase deficiency, variable phenotype, STORAGE-DISEASE TYPE-0, KETOTIC HYPOGLYCEMIA, LIVER, MUTATIONS, GENE
  • Ankara Üniversitesi Adresli: Hayır

Özet

Background: Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in the GYS2 gene, which is transmitted in an autosomal recessive trait. It is a rare form of hepatic glycogen storage disease with less than 30 cases reported in the literature so far. The disorder is characterized by fasting hyperketotic hypoglycemia without hyperalaninemia or hyperlactacidemia. It is a glycogenosis with lack of liver glycogen synthesis, therefore hepatomegaly is not observed in patients with glycogen synthase deficiency. Symptoms of fasting hypoglycemia in patients with glycogen storage disease type 0 (GSDI0) usually appear for the first time in late infancy when weaning from overnight feeds. Seizures associated with low blood glucose may also occur, but they are rare. Clinical management is therefore based on frequent meals composed of high protein intake during the day and addition of uncooked cornstarch in the evening.