GSD1a is caused by a deficiency in the enzyme glucose-6-phosphatase.
Glucose-6-phosphatase is localized on the luminal side of the endoplasmic reticulum.
GSD1b is caused by glucose-6-phosphate translocase because of mutant G6PT1(SLC37A4).
Glucose-6 phosphatase converts glucose-6-phosphate to glucose in the liver.
These deficiencies cause hypoglycemia since the glucose6P can’t be broken down to glucose.
#glycogenstoragedisease #biochemistry #pathophysiology
(Reference) I express my gratitude and respect for your wonderful achievements.
1. Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS., American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet. Med. 2014 Nov;16(11):e1.
PMID:25356975 DOI:10.1038/gim.2014.128
2. Yigal Dror. Inherited Bone Marrow Failure Syndromes. Hematology (seven Edition) 2018, Pages 350-393
doi.org/10.1016/B978-0-323-35...
3. NORD National Organization for Rare Disorders
rarediseases.org/