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Glycogen storage disease, type VI(GSD6)

MedGen UID:
6643
Concept ID:
C0017925
Disease or Syndrome
Synonyms: Glycogen storage disease type 6; GSD VI; GSD6; Hepatic glycogen phosphorylase deficiency; Hers disease; Liver Phosphorylase Kinase Deficiency; Phosphorylase deficiency glycogen-storage disease of liver
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Glycogen storage disease, type VI (29291001); Hepatic phosphorylase deficiency (29291001); Hers disease (29291001); GSD VI (29291001); Hepatic glycogen phosphorylase deficiency (29291001)
 
Gene (location): PYGL (14q22.1)
OMIM®: 232700
Orphanet: ORPHA369

Definition

Glycogen storage disease type VI (GSD VI), a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase, is characterized in the untreated child by hepatomegaly, growth retardation, ketotic hypoglycemia after an overnight fast, and mild hypoglycemia after prolonged fasting (e.g., during an illness). It is usually a relatively mild disorder that presents in infancy and childhood; however, severe and recurrent hypoglycemia, severe hepatomegaly, and post-prandial lactic acidosis have been described. The risk of hepatic adenoma formation in late childhood and adulthood is theoretically increased. Clinical and biochemical abnormalities may resolve with age; most adults are asymptomatic. Hypoglycemia can occur during pregnancy. [from GTR]

Additional descriptions

From GeneReviews
Glycogen storage disease type VI (GSD VI), a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase, is characterized in the untreated child by hepatomegaly, growth retardation, ketotic hypoglycemia after an overnight fast, and mild hypoglycemia after prolonged fasting (e.g., during an illness). It is usually a relatively mild disorder that presents in infancy and childhood; however, severe and recurrent hypoglycemia, severe hepatomegaly, and post-prandial lactic acidosis have been described. The risk of hepatic adenoma formation in late childhood and adulthood is theoretically increased. Clinical and biochemical abnormalities may resolve with age; most adults are asymptomatic. Hypoglycemia can occur during pregnancy.  https://www.ncbi.nlm.nih.gov/books/NBK5941
From GHR
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.The signs and symptoms of GSDVI typically begin in infancy to early childhood. The first sign is usually an enlarged liver (hepatomegaly). Affected individuals may also have low blood sugar (hypoglycemia) or a buildup of lactic acid in the body (lactic acidosis) during prolonged periods without food (fasting).The signs and symptoms of GSDVI tend to improve with age; most adults with this condition do not have any related health problems.  https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

Clinical features

Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Increased hepatic glycogen content
MedGen UID:
344698
Concept ID:
C1856285
Finding
An increase in the amount of glycogen stored in hepatocytes compared to normal.
Lactic acidosis
MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.
Lipedema
MedGen UID:
5692
Concept ID:
C0020473
Disease or Syndrome
Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects women almost exclusively and, in most instances, represents an exaggeration of the female form (summary by Hines, 1952).
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Hyperuricemia
MedGen UID:
149260
Concept ID:
C0740394
Disease or Syndrome
An abnormally high level of uric acid in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen storage disease, type VI
Follow this link to review classifications for Glycogen storage disease, type VI in Orphanet.

Recent clinical studies

Etiology

Burda P, Hochuli M
Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):415-21. doi: 10.1097/MCO.0000000000000181. PMID: 26001652
Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S
Mol Genet Metab 2014 Nov;113(3):171-6. Epub 2014 Sep 21 doi: 10.1016/j.ymgme.2014.09.005. PMID: 25266922
Manzia TM, Angelico R, Toti L, Cillis A, Ciano P, Orlando G, Anselmo A, Angelico M, Tisone G
Transplant Proc 2011 May;43(4):1181-3. doi: 10.1016/j.transproceed.2011.01.129. PMID: 21620082
Ogawa A, Ogawa E, Yamamoto S, Fukuda T, Sugie H, Kohno Y
Pediatr Int 2010 Jun;52(3):e150-3. doi: 10.1111/j.1442-200X.2010.03073.x. PMID: 20723115
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

Diagnosis

Jagadisan B, Ranganath P
Indian Pediatr 2017 Sep 15;54(9):775-776. PMID: 28984260
Burda P, Hochuli M
Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):415-21. doi: 10.1097/MCO.0000000000000181. PMID: 26001652
Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S
Mol Genet Metab 2014 Nov;113(3):171-6. Epub 2014 Sep 21 doi: 10.1016/j.ymgme.2014.09.005. PMID: 25266922
Ogawa A, Ogawa E, Yamamoto S, Fukuda T, Sugie H, Kohno Y
Pediatr Int 2010 Jun;52(3):e150-3. doi: 10.1111/j.1442-200X.2010.03073.x. PMID: 20723115
Paesold-Burda P, Baumgartner MR, Santer R, Bosshard NU, Steinmann B
J Inherit Metab Dis 2007 Nov;30(6):896-902. Epub 2007 Nov 12 doi: 10.1007/s10545-007-0734-4. PMID: 17994282

Therapy

Capanoglu M, Dibek Misirlioglu E, Azkur D, Vezir E, Guvenir H, Gunduz M, Toyran M, Civelek E, Kocabas CN
Int Arch Allergy Immunol 2016;169(3):198-202. Epub 2016 May 4 doi: 10.1159/000446154. PMID: 27144408
Burda P, Hochuli M
Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):415-21. doi: 10.1097/MCO.0000000000000181. PMID: 26001652
Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases.
Genet Med 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1. PMID: 21502868
Asami T, Kikuchi T, Asami K, Uchiyama M
Acta Paediatr Jpn 1996 Oct;38(5):524-8. PMID: 8942015
Newgard CB, Fletterick RJ, Anderson LA, Lebo RV
Am J Hum Genet 1987 Apr;40(4):351-64. PMID: 2883891Free PMC Article

Prognosis

Burda P, Hochuli M
Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):415-21. doi: 10.1097/MCO.0000000000000181. PMID: 26001652
Manzia TM, Angelico R, Toti L, Cillis A, Ciano P, Orlando G, Anselmo A, Angelico M, Tisone G
Transplant Proc 2011 May;43(4):1181-3. doi: 10.1016/j.transproceed.2011.01.129. PMID: 21620082
Ogawa A, Ogawa E, Yamamoto S, Fukuda T, Sugie H, Kohno Y
Pediatr Int 2010 Jun;52(3):e150-3. doi: 10.1111/j.1442-200X.2010.03073.x. PMID: 20723115
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
Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG
Hum Mol Genet 1998 May;7(5):865-70. PMID: 9536091

Clinical prediction guides

Jagadisan B, Ranganath P
Indian Pediatr 2017 Sep 15;54(9):775-776. PMID: 28984260
Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S
Mol Genet Metab 2014 Nov;113(3):171-6. Epub 2014 Sep 21 doi: 10.1016/j.ymgme.2014.09.005. PMID: 25266922
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
Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG
Hum Mol Genet 1998 May;7(5):865-70. PMID: 9536091
Asami T, Kikuchi T, Asami K, Uchiyama M
Acta Paediatr Jpn 1996 Oct;38(5):524-8. PMID: 8942015

Recent systematic reviews

Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases.
Genet Med 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1. PMID: 21502868

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