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Liver glycogenosis, X-linked, type ii(XLG2)

MedGen UID:
336686
•Concept ID:
C1844412
•
Disease or Syndrome
Synonym: Liver Glycogenosis, X-Linked, Type II
 
OMIM®: 306000

Recent clinical studies

Etiology

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F
Am J Med Genet 1997 Oct 17;72(2):135-42. PMID: 9382133

Diagnosis

X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.
Chen ST, Chen HL, Ni YH, Chien YH, Jeng YM, Chang MH, Hwu WL
Pediatr Neonatol 2009 Oct;50(5):230-3. doi: 10.1016/S1875-9572(09)60068-1. PMID: 19856867
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.
Ban K, Sugiyama K, Goto K, Mizutani F, Togari H
Tohoku J Exp Med 2003 May;200(1):47-53. doi: 10.1620/tjem.200.47. PMID: 12862311
Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.
Hendrickx J, Bosshard NU, Willems P, Gitzelmann R
Eur J Pediatr 1998 Nov;157(11):919-23. doi: 10.1007/s004310050967. PMID: 9835437
Glycogen storage diseases.
Hug G
Birth Defects Orig Artic Ser 1976;12(6):145-75. PMID: 788807

Prognosis

3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C, Jonic S, Mornon JP, Callebaut I
Biochim Biophys Acta 2008 Nov;1782(11):664-70. Epub 2008 Oct 7 doi: 10.1016/j.bbadis.2008.09.011. PMID: 18950708
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F
Am J Med Genet 1997 Oct 17;72(2):135-42. PMID: 9382133

Clinical prediction guides

3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C, Jonic S, Mornon JP, Callebaut I
Biochim Biophys Acta 2008 Nov;1782(11):664-70. Epub 2008 Oct 7 doi: 10.1016/j.bbadis.2008.09.011. PMID: 18950708
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F
Am J Med Genet 1997 Oct 17;72(2):135-42. PMID: 9382133
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).
Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J, Smeitink J, Berger R, Lee P, Fernandes J
Genomics 1994 Jun;21(3):620-5. doi: 10.1006/geno.1994.1322. PMID: 7959740

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