Glycogen storage disease - Radiopaedia.org
2024年6月25日 · Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen. There are many types of GSD: Note that types VIII and X are not on the list since they have now been reclassified.
Sonographic findings in type I glycogen storage disease
The most frequent sonographic findings in patients with type I glycogen storage disease were hepatomegaly, increased hepatic echogenicity, and enlarged kidneys. Sonography may help in the diagnosis of type I glycogen storage disease, but …
Glycogen Storage Disease (GSD) - Children's Hospital of Philadelphia
Glycogen storage disease (GSD) is a rare metabolic disorder where the body is not able to properly store or break down glycogen, a form of sugar or glucose. GSD affects the liver, muscles and other areas of the body, depending on the specific type.
Glycogen Storage Disease (GSD): Symptoms, Treatment & Types
What is glycogen storage disease? Glycogen storage diseases (GSDs) are a group of rare conditions in which your body can’t use or store glycogen properly. They’re types of inherited (passed from parent to child) metabolic disorders.
Hepatic ultrasound findings in the glycogen storage diseases
Hepatic ultrasonography was performed on 70 patients with the hepatic glycogen storage diseases (GSDs) to assess parenchymal echogenicity. 27 patients had GSD-I, 24 had GSD-III and 19 had GSDs-VI/IX; ages varied from 0.6 to 35.7 years (median 11.7). 31 (44%) had normal or mild parenchymal changes, a …
Sonographic findings in type I glycogen storage disease
2001年9月26日 · The most frequent sonographic findings in patients with type I glycogen storage disease were hepatomegaly, increased hepatic echogenicity, and enlarged kidneys.
Glycogen Storage Disease Type I - StatPearls - NCBI Bookshelf
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.
Glycogen Storage Disease Type I - GeneReviews® - NCBI Bookshelf
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 I and Bone: Clinical and Cellular ...
In this study, we evaluated the clinical bone complications and the cellular responses in 20 patients (aged 14.1 ± 3.4 years) affected by GSD type I. Fragility fractures were reported in 35% of the patients, which were older than unfractured patients.
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