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MeSH Review:

Glycogen Storage Disease Type IV

Moses, S.W. et al., Reusche, E. et al., Komure, O. et al., Tay, S.K. et al., Tang, T.T. et al.

Moses, Parvari,

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Disease relevance of Glycogen Storage Disease Type IV

Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching enzyme [1].
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis [2].
The mild juvenile form of type IV glycogenosis, confirmed by a profound deficiency of the brancher enzyme in tissue specimens is reported from three Turkish male siblings who, foremost, suffered from chronic progressive myopathy [3].

High impact information on Glycogen Storage Disease Type IV

The structural similarity among the polysaccharide deposits in our case, amylopectin-like materials in type IV glycogenosis, Lafora bodies, corpora amylacea, and polyglucosan bodies is discussed [4].
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumulation of amylopectin-like structures in affected tissues [5].

References

Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Tay, S.K., Akman, H.O., Chung, W.K., Pike, M.G., Muntoni, F., Hays, A.P., Shanske, S., Valberg, S.J., Mickelson, J.R., Tanji, K., DiMauro, S. Neuromuscul. Disord. (2004) [Pubmed]
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Tang, T.T., Segura, A.D., Chen, Y.T., Ricci, L.M., Franciosi, R.A., Splaingard, M.L., Lubinsky, M.S. Acta Neuropathol. (1994) [Pubmed]
A mild juvenile variant of type IV glycogenosis. Reusche, E., Aksu, F., Goebel, H.H., Shin, Y.S., Yokota, T., Reichmann, H. Brain Dev. (1992) [Pubmed]
Intra-axonal polysaccharide deposits in the peripheral nerve seen in adult polysaccharide storage myopathy. Komure, O., Ichikawa, K., Tsutsumi, A., Hiyama, K., Fujioka, A. Acta Neuropathol. (1985) [Pubmed]
The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Moses, S.W., Parvari, R. Curr. Mol. Med. (2002) [Pubmed]

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