Glycogen storage disease type IV

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Glycogen storage disease type IV is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. Glycogen Storage Disease Type IV is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease. It affects 1 in 800,000 individuals worldwide, with 3% of all Glycogen Storage Diseases being type IV.[2]

Glycogen storage disease type IV
Other namesAndersen's triad, Andersen’s Disease[1]
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Glycogen
SpecialtyEndocrinology, medical genetics, hepatology Edit this on Wikidata

Human pathologyEdit

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 a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The inability to breakdown glycogen in muscle cells causes muscle weakness. The probable end result is cirrhosis and death within 5 years. In adults, the activity of the enzyme is higher and symptoms do not appear until later in life.

Variant typesEdit

Fatal perinatal neuromuscular typeEdit

  • Excess fluid builds up around fetus and in the fetus’ body
  • Fetus have condition called 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 newborn stage due to weakened heart and lungs

Congenital muscular typeEdit

  • Develops in early infancy
  • Babies have dilated cardiomyopathy, preventing heart from pumping efficiently
  • Only survive a few months

Progressive hepatic typeEdit

  • Infants have difficulty gaining weight
  • Develop enlarged liver and cirrhosis, that is irreversible
  • High BP in hepatic portal vein and buildup of fluid in abdominal cavity
  • Die of liver failure in early childhood

Non-progressive hepatic typeEdit

  • Same as progressive, but liver disease is not as severe
  • Do not usually develop cirrhosis
  • Usually show muscle weakness and hypotonia
  • Survive into adulthood
  • Life expectancy varies on severity of symptoms

Childhood neuromuscular typeEdit

  • 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

DiagnosisEdit

An assay of α 1,4 1,4 glucan transferases.

TerminologyEdit

It is also known as:

  • Glycogenosis type IV
  • Glycogen branching enzyme deficiency
  • Polyglucosan body disease
  • Amylopectinosis

The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen.[3][4]

Mutations in GBE1 can also cause a milder disease in adults called adult polyglucosan body disease.[5]

In animalsEdit

The form in horses is known as glycogen branching enzyme deficiency. It has been reported in American Quarter Horses and related breeds.

The disease has been reported in the Norwegian Forest Cat, where it causes skeletal muscle, heart, and CNS degeneration in animals greater than 5 months old. It has not been associated with cirrhosis or liver failure.[6][7]

ReferencesEdit

  1. ^ "Andersen Disease (GSD IV)".
  2. ^ "Glycogen Storage Disease Type IV." Genetics Home Reference. U.S. National Library of Medicine, 10 Sept. 2015. Web. 27 Sept. 2015.
  3. ^ Andersen's disease (Dorothy Hansine Andersen) at Who Named It?
  4. ^ Andersen DH (1956). "Familial cirrhosis of the liver with storage of abnormal glycogen". Lab. Invest. 5 (1): 11–20. PMID 13279125.
  5. ^ 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.
  6. ^ Fyfe, JC; Giger, U; Van Winkle, TJ; Haskins, ME; Steinberg, SA; Wang, P; Patterson, DF (December 1992). "Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats". Pediatric Research. 32 (6): 719–25. doi:10.1203/00006450-199212000-00020. PMID 1337588.
  7. ^ Fyfe, J. C.; Kurzhals, R. L.; Hawkins, M. G.; Wang, P.; Yuhki, N.; Giger, U.; Van Winkle, T. J.; Haskins, M. E.; Patterson, D. F.; Henthorn, P. S. (2007). "A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats". Molecular Genetics and Metabolism. 90 (4): 383–392. doi:10.1016/j.ymgme.2006.12.003. PMC 2063609. 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 linksEdit

Classification
External resources