Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment.

2023年8月8日 · Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism pathway. It was first described by Von Gierke in 1929 who reported excessive hepatic and renal glycogen in the autopsy reports of 2 children.

2006年4月19日 · Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to …

Glycogen storage disease type 1b (GSD 1b) is an inherited metabolic defect caused by a deficiency of microsomal glucose-6-phosphate (G6P) transport protein across the endoplasmic reticulum membrane. Patients with GSD 1b have hypoglycemia episodes, lactate acidosis, hypertriglyceridemia, hypercholesterolemia, hyperuricemia, neutropenia and in ...

Glycogen storage disease is characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver and chronic neutropenia. Herein we describe a 4-month-old Turkish patient with early onset and severe typical clinical features of GSD-1b in which a novel mutation in the ...

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

GSD1b accounts for an estimated 20% of GSD Type 1 cases and is considered ultra-rare with an estimated occurrence of 1 / 1,000,000 births. GSD1b is caused by a mutation of the gene SLC37A4. SLC37A4 gene is responsible for the functionality of the Glucose 6 Phosphate Transporter (G6PT) enzyme.

2020年1月1日 · Glycogen storage disease type 1b (GSD1b) (OMIM #232220) is an autosomal recessive inborn error of metabolism caused by mutations in the glucose-6-phosphate transporter 1 gene (SLC37A4) crucial for glycogen/glucose homeostasis and located in the long arm of chromosome 11q23.3 (Melis et al. 2017; Annabi et al. 1998).

2022年12月1日 · Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system...

GSD Type 1B is diagnosed via laboratory tests which look for abnormal levels of glucose, lactate, uric acid, triglycerides and cholesterol. Testing for the G6PC and SLC37A4 gene’s is also preformed to confirm diagnosis.