Glycogen storage disease type IV
Glycogen storage disease type IV | |
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Other names | Andersen's triad, Andersen’s disease[1] |
Glycogen | |
Specialty | Endocrinology, medical genetics, hepatology |
Glycogen storage disease type IV (GSD IV), or Andersen's Disease,
Human pathology
It is a result of the absence of the glycogen branching enzyme, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have low solubility, leading to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The inability to break down glycogen in muscle cells causes muscle weakness. The probable result is cirrhosis and death within five years. In adults, the activity of the enzyme is higher and symptoms do not appear until later in life.[citation needed]
Variant types
Fatal perinatal neuromuscular type
- Excess fluid builds up around and in the body of the fetus
- Fetuses exhibit fetal akinesia deformation sequence
- Causes decrease in fetal movement and stiffness of joints after birth
- Infants have low muscle tone and muscle wasting
- Do not survive past the newborn stage due to weakened heart and lungs
Congenital muscular type
- Develops in early infancy
- Babies have dilated cardiomyopathy, preventing the heart from pumping efficiently
- Only survive a few months
Progressive hepatic type
- Infants have difficulty gaining weight
- Develop enlarged liver and cirrhosis that is irreversible
- High BP in hepatic portal vein and buildup of fluid in the abdominal cavity
- Die of liver failure in early childhood
Non-progressive hepatic type
- Same as progressive, but liver disease is not so severe
- Do not usually develop cirrhosis
- Usually show muscle weakness and hypotonia
- Survive into adulthood
- Life expectancy varies upon symptom severity
Childhood neuromuscular type
- Develops in late childhood
- Has myopathy and dilated cardiomyopathy
- Varies greatly
- Some have mild muscle weakness
- Some have severe cardiomyopathy and die in early adulthood
Diagnosis
An assay of amylo-1,4 → 1,6 glucan transferases (which removes a block of 6 glucose residues from the 1,4 position and attaches it to the 1,6 position of the same chain)
Alternative names in medical literature for the disease include:
- Andersen's triad
- Glycogenosis type IV
- Glycogen branching enzyme deficiency
- Polyglucosan body disease
- Amylopectinosis
Mutations in GBE1 can also cause a milder disease in adults that is called adult polyglucosan body disease.[8]
In other mammals
The form in horses is known as
The disease has been reported in the
References
- ^ "Andersen Disease (GSD IV)".
- Who Named It?
- PMID 13279125.
- ^ "Andersen Disease (GSD IV)". National Organization for Rare Disorders. Retrieved 5 February 2023.
- ^ "Glycogen Storage Disease Type IV." Genetics Home Reference. U.S. National Library of Medicine, 10 Sept. 2015. Web. 27 Sept. 2015.
- ^ Marsden, Deborah. "Andersen Disease (GSD IV)". NORD (National Organization of Rare Diseases). Retrieved 1 December 2018.
- ISBN 978-0-323-05291-7. Retrieved 1 December 2018.
- ^ McKusick, Victor A.; Kniffin, Cassandra L. (May 2, 2016). "OMIM Entry 263570 - Polyglucosan body neuropathy, adult form". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 7 March 2017.
- PMID 1337588.
- PMID 17257876. "Deficiency of glycogen branching enzyme (GBE) activity causes glycogen storage disease type IV (GSD IV), an autosomal recessive error of metabolism. Abnormal glycogen accumulates in myocytes, hepatocytes, and neurons, causing variably progressive, benign to lethal organ dysfunctions. A naturally occurring orthologue of human GSD IV was described previously in Norwegian Forest cats (NFC)."
External links
- Media related to Glycogen storage disease type IV at Wikimedia Commons