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Glycogen storage disease type IIIa (GSD‐IIIa) is an autosomal recessive disorder that impairs glycogenolysis, producing ketotic hypoglycaemia, hepatomegaly, cardiac and skeletal myopathy. During pregnancy, increased metabolic demand requires careful management.
6 mar 2019 · The hepatic glycogen storage diseases (GSDs) are a group of disorders where abnormal storage or release of glycogen leads to potentially life-threatening hypoglycemia and metabolic disturbances. Dietary interventions have markedly improved the outcome for these disorders, from a previously fatal condition to one where people can do well with ...
26 sie 2016 · Glycogen storage disease type IV (Andersen disease) (OMIM 232500) and Adult Polyglucosan Body Disease (APBD) (OMIM 263570) are allelic disorders caused by a deficiency of the glycogen branching enzyme encoded by the GBE1 gene. While GSD type IV is a clinically heterogeneous disorder that severely affects liver and/or muscle, APBD is a late ...
1 mar 2020 · Introduction. The hepatic glycogen storage diseases (GSDs) are a group of inborn errors of metabolism caused by abnormalities of the enzymes that catalyze the synthesis or degradation of glycogen. The first GSD was described by Edgar von Gierke in 1929 (1) and there are now at least 16 recognized types (Table 1). TABLE 1.
7 wrz 2023 · This Primer provides a general overview of the epidemiology, diagnosis, pathophysiology and treatment of the glycogen storage diseases. These genetic conditions are characterized by deficits...
Glycogen storage disease (GSD) type I, also called Von Gierke disease, results from a deficiency of glucose-6-phosphatase (Type Ia) or glucose-6-phosphatase translocase (Type Ib), preventing the production of glucose from glycogen stores during periods of fasting leading to severe hypoglycemia, if untreated [4].
29 maj 2023 · Objectives: Identify the etiology of various glycogen storage diseases. Explain the typical patient history associated with glycogen storage diseases. Outline the diagnostic evaluation of patients suspected to have a glycogen storage disease.
