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Glycogen storage disease, type VI(GSD6)

MedGen UID:
6643
Concept ID:
C0017925
Disease or Syndrome
Synonyms: Glycogen storage disease 6; Glycogen storage disease type 6; GLYCOGEN STORAGE DISEASE VI; 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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
autosomal recessive
MedGen UID:
832197
Concept ID:
CN227382
Intellectual Product
Describes a disorder in which two mutated alleles located on one of the 22 autosomes (non-sex chromosomes) are necessary to express the phenotype and which carries a 25% risk of being passed on to offspring.
SNOMED CT: Hepatic glycogen phosphorylase deficiency (237971004); Hers disease (237971004); Glycogen storage disease type VI (237971004); Glycogen storage disease, type VI (29291001); Hepatic phosphorylase deficiency (29291001); Hers disease (29291001); GSD VI (29291001); Hepatic glycogen phosphorylase deficiency (29291001)
 
Gene: PYGL
Cytogenetic location: 14q22.1
OMIM®: 232700
Orphanet: ORPHA369

Disease characteristics

Excerpted from the GeneReview: Glycogen Storage Disease Type VI
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 GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Aditi I Dagli  |  David A Weinstein   view full author information

Additional description

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.  http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Postnatal growth retardation
MedGen UID:
355888
Concept ID:
C1865007
Finding
Increased hepatic glycogen content
MedGen UID:
344698
Concept ID:
C1856285
Finding
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Lactic acidosis
MedGen UID:
344523
Concept ID:
C1855560
Finding
Hypoglycemia
MedGen UID:
505016
Concept ID:
CN001757
Finding
A decreased concentration of glucose in the blood.
Hyperuricemia
MedGen UID:
505126
Concept ID:
CN001947
Finding
An abnormally high level of uric acid in the blood.
Hyperlipidemia
MedGen UID:
505446
Concept ID:
CN002774
Finding
An elevated lipid concentration in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGGlycogen storage disease, type VI

Recent clinical studies

Etiology

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. [Epub ahead of print] 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

Diagnosis

Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR
Br J Radiol 2014 Jan;87(1033):20130467. Epub 2013 Nov 14 doi: 10.1259/bjr.20130467. [Epub ahead of print] PMID: 24234586Free PMC Article
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
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
Dahan N, Baussan C, Moatti N, Lemonnier A
J Inherit Metab Dis 1988;11(3):253-60. PMID: 3148066

Therapy

Asami T, Kikuchi T, Asami K, Uchiyama M
Acta Paediatr Jpn 1996 Oct;38(5):524-8. PMID: 8942015
Goldberg T, Slonim AE
J Am Diet Assoc 1993 Dec;93(12):1423-30. PMID: 8245377
Cabalska B, Zbieg-Sendecka E, Kobryń A, Pronicka E, Pieniazek D
Mater Med Pol 1987 Oct-Dec;19(4):290-3. PMID: 3483883
Newgard CB, Fletterick RJ, Anderson LA, Lebo RV
Am J Hum Genet 1987 Apr;40(4):351-64. PMID: 2883891Free PMC Article
Pieniazek D, Pronicka E, Pawłowska J
Horm Metab Res 1986 Aug;18(8):546-50. PMID: 3093350

Prognosis

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. [Epub ahead of print] 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

Clinical prediction guides

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. [Epub ahead of print] 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
Newgard CB, Fletterick RJ, Anderson LA, Lebo RV
Am J Hum Genet 1987 Apr;40(4):351-64. PMID: 2883891Free PMC Article
Lederer B, Van Hoof F, Van den Berghe G, Hers H
Biochem J 1975 Apr;147(1):23-35. PMID: 168880Free PMC Article

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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