U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Reduced hepatic glycogen phosphorylase activity

MedGen UID:
1053464
Concept ID:
CN378331
Finding
HPO: HP:6000979

Definition

Activity or concentration of glycogen phosphorylase L in the liver below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced hepatic glycogen phosphorylase activity

Conditions with this feature

Glycogen storage disease, type VI
MedGen UID:
6643
Concept ID:
C0017925
Disease or Syndrome
Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzyme catalyzes the rate-limiting step in glycogen degradation, and deficiency of the enzyme in the untreated child is characterized by hepatomegaly, poor growth, ketotic hypoglycemia, elevated hepatic transaminases, hyperlipidemia, and low prealbumin level. GSD VI is usually a relatively mild disorder that presents in infancy and childhood; rare cases of more severe disease manifesting with recurrent hypoglycemia and marked hepatomegaly have been described. More common complications in the setting of suboptimal metabolic control include short stature, delayed puberty, osteopenia, and osteoporosis. Hepatic fibrosis commonly develops in GSD VI, but cirrhosis and hypertrophic cardiomyopathy are rare. Clinical and biochemical abnormalities may decrease with age, but ketosis and hypoglycemia can continue to occur.

Recent clinical studies

Therapy

Martínez-Navarro FJ, Martínez-Morcillo FJ, López-Muñoz A, Pardo-Sánchez I, Martínez-Menchón T, Corbalán-Vélez R, Cayuela ML, Pérez-Oliva AB, García-Moreno D, Mulero V
Dev Comp Immunol 2020 Jul;108:103666. Epub 2020 Feb 29 doi: 10.1016/j.dci.2020.103666. PMID: 32126244
Liu J, Wang X, Chen YP, Mao LF, Shang J, Sun HB, Zhang LY
Chin J Nat Med 2014 Apr;12(4):259-65. doi: 10.1016/S1875-5364(14)60052-2. PMID: 24863350
Praly JP, Vidal S
Mini Rev Med Chem 2010 Oct;10(12):1102-26. doi: 10.2174/1389557511009011102. PMID: 20716051
Combettes M, Kargar C
Therapie 2007 Jul-Aug;62(4):293-310. Epub 2007 Nov 6 doi: 10.2515/therapie:2007054. PMID: 17983555
Newgard CB, Brady MJ, O'Doherty RM, Saltiel AR
Diabetes 2000 Dec;49(12):1967-77. doi: 10.2337/diabetes.49.12.1967. PMID: 11117996

Prognosis

Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ
J Inherit Metab Dis 2007 Oct;30(5):722-34. Epub 2007 Aug 21 doi: 10.1007/s10545-007-0499-9. PMID: 17705025
Stallknecht B, Vissing J, Galbo H
Scand J Med Sci Sports 1998 Jun;8(3):127-31. doi: 10.1111/j.1600-0838.1998.tb00181.x. PMID: 9659671
Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG
Hum Mol Genet 1998 May;7(5):865-70. doi: 10.1093/hmg/7.5.865. PMID: 9536091

Clinical prediction guides

Zois CE, Hendriks AM, Haider S, Pires E, Bridges E, Kalamida D, Voukantsis D, Lagerholm BC, Fehrmann RSN, den Dunnen WFA, Tarasov AI, Baba O, Morris J, Buffa FM, McCullagh JSO, Jalving M, Harris AL
Cell Death Dis 2022 Jun 28;13(6):573. doi: 10.1038/s41419-022-05005-2. PMID: 35764612Free PMC Article
Liu KM, Wu JY, Chen YT
Mol Genet Metab 2014 Apr;111(4):467-76. Epub 2014 Feb 18 doi: 10.1016/j.ymgme.2014.02.005. PMID: 24613482
Krähenbühl L, Lang C, Lüdes S, Seiler C, Schäfer M, Zimmermann A, Krähenbühl S
Liver Int 2003 Apr;23(2):101-9. doi: 10.1034/j.1600-0676.2003.00805.x. PMID: 12654132
Plougmann S, Hejlesen O, Turner B, Kerr D, Cavan D
Stud Health Technol Inform 2002;90:66-71. PMID: 15460663
Stallknecht B, Vissing J, Galbo H
Scand J Med Sci Sports 1998 Jun;8(3):127-31. doi: 10.1111/j.1600-0838.1998.tb00181.x. PMID: 9659671

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...