Results 1 to 10 of about 36,696 (264)

Glycogen storage disease type Ia with a 17-year history of renal involvement: a case report [PDF]

Journal of Medical Case Reports
Background Glycogen storage disease type Ia is a rare inherited metabolic disorder often accompanied by renal complications; however, the dynamic progression and its renal pathology remain poorly understood.
Minting Chen, Lubin Xu, Xiaoxiao Shi, Yubing Wen, Jie Ma, Rongrong Hu, Gang Chen   +6 more
doaj   +2 more sources

Ketotic hypoglycemia in patients with Down syndrome

JIMD Reports, 2021
Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the ...
Danielle Drachmann, Austin Carrigg, David A. Weinstein, Jacob Sten Petersen, Henrik Thybo Christesen   +4 more
doaj   +1 more source

Glycogen storage diseases

Nature Reviews Disease Primers, 2023
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future ...
William B. Hannah, Terry G. J. Derks, Mitchell L. Drumm, Sarah C. Grünert, Priya S. Kishnani, John Vissing   +5 more
openaire   +5 more sources

A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT

İstanbul Tıp Fakültesi Dergisi, 2021
Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency.
Meryem Karaca, Halil Aslan
doaj   +1 more source

Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I

Radiology Case Reports, 2023
A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left ...
Takeshi Sato, MD, Mikako Inokuchi, MD, PhD, Satsuki Nakano, MD, Yu Iwabuchi, MD, PhD, Tetsu Hayashida, MD, PhD, Tomohiro Ishii, MD, PhD, Tomonobu Hasegawa, MD, PhD   +6 more
doaj   +1 more source

Glycogen storage diseases: An update

World Journal of Gastroenterology, 2023
Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization. The overall estimated GSD incidence is 1 case per 20000-43000 live births. There
Gümüş, Ersin, Özen, Hasan
openaire   +2 more sources

METABOLIC VS INFLAMMATORY MYOPATHY: DIAGNOSTIC DIFFICULTIES AND ERRORS IN MYOPATHIES – CASE REPORT [PDF]

Romanian Journal of Rheumatology, 2019
Glycogen storage diseases are genetic metabolic disorders of glycogen metabolism. There are more than 12 types and they are grouped based on the enzyme deficiency and the affected tissue.
Andra-Patricia Stanciu, Sinziana Daia-Iliescu, Mircea Diculescu, Ruxandra Ionescu   +3 more
doaj   +1 more source

Assessment of auditory functions in patients with hepatic glycogen storage diseases

The Turkish Journal of Pediatrics, 2022
Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı, Fatih Ezgü, İlyas Okur, Aslı İnci, Ayşe Kılıç, Ekin Özsaydı, Bülent Gündüz, Hakan Tutar, Nuriye Yıldırım Gökay, Leyla Tümer   +9 more
doaj   +1 more source

Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International

Orphanet Journal of Rare Diseases, 2021
Background Idiopathic Ketotic hypoglycemia (IKH) is a diagnosis of exclusion. Although considered as the most frequent cause of hypoglycemia in childhood, little progress has been made to advance the understanding of IKH since the medical term was coined
Danielle Drachmann, Erica Hoffmann, Austin Carrigg, Beccie Davis-Yates, Valerie Weaver, Paul Thornton, David A. Weinstein, Jacob S. Petersen, Pratik Shah, Henrik Thybo Christesen   +9 more
doaj   +1 more source

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI

Hepatology Communications, 2019
Mutations in the liver glycogen phosphorylase (Pygl) gene are associated with the diagnosis of glycogen storage disease type VI (GSD‐VI). To understand the pathogenesis of GSD‐VI, we generated a mouse model with Pygl deficiency (Pygl−/−).
Lane H. Wilson, Jun‐Ho Cho, Ana Estrella, Joan A. Smyth, Rong Wu, Tayoot Chengsupanimit, Laurie M. Brown, David A. Weinstein, Young Mok Lee   +8 more
doaj   +1 more source