Andersen disease (GSD type IV): management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Andersen disease (GSD type IV): management. Molecular genetics, Muscle biopsy, Echocardiogram. Fully referenced neurology checklist.
Investigations
- Molecular genetics
- Muscle biopsy
- Pre-natal diagnosis: GBE activity in cultured chorionic villus sampling
- Echocardiogram
Dietary management
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Interventional treatment
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Synonyms
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References
- Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 1996; 97:941-948.
- Bruno C, van Diggelen OP, Cassandrini D, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 2004; 63:1053-1058.
- Gümüş E, Özen H. Glycogen storage diseases: an update. World J Gastroenterol 2023; 29:3932-3963.
- Akman HO, Karadimas C, Gyftodimou Y, et al. Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn 2006; 26:951-955.
- Wilke MVMB, de Oliveira BM, Starosta RT, et al. A broad characterization of glycogen storage disease IV patients: a clinical, genetic, and histopathological study. Biomedicines 2023; 11:363.
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