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Glycogen storage disease type III(GSD3)

MedGen UID:
6641
Concept ID:
C0017922
Disease or Syndrome
Synonyms: Amylo-1,6-glucosidase deficiency; Cori disease; Forbes disease; Glycogen debrancher deficiency; Glycogen storage disease type 3; GSD3; Limit dextrinosis
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 III (66937008); Cori's disease (66937008); Amylo-1,6-glucosidase deficiency (66937008); Debrancher deficiency glycogen storage disease (66937008); Limit dextrinosis (66937008); GSD III (66937008); Glycogen storage disease type 3 (66937008); Cori disease (66937008); Debrancher enzyme deficiency (66937008); Limit dextrin - glycogen (66937008); Glycogen storage disease type III (66937008)
 
Gene (location): AGL (1p21.2)
OMIM®: 232400
Orphanet: ORPHA308684

Disease characteristics

Excerpted from the GeneReview: Glycogen Storage Disease Type III
Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. GSD IIIb, with liver involvement only, comprises about 15% of all GSD III. In infancy and early childhood, liver involvement presents as ketotic hypoglycemia, hepatomegaly, hyperlipidemia, and elevated hepatic transaminases. In adolescence and adulthood, liver disease becomes less prominent. Hypertrophic cardiomyopathy develops in the majority of those with GSD IIIa, usually during childhood. Its clinical significance ranges from asymptomatic in the majority to severe cardiac dysfunction, congestive heart failure, and (rarely) sudden death. Skeletal myopathy manifesting as weakness is not usually evident in childhood, but slowly progresses, typically becoming prominent in the third to fourth decade. [from GeneReviews]
Authors:
Aditi Dagli  |  Christiaan P Sentner  |  David A Weinstein   view full author information

Additional descriptions

From OMIM
Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990). Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996). Lucchiari et al. (2007) provided a review of GSD III.  http://www.omim.org/entry/232400
From GHR
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition.Beginning in infancy, individuals with any type of GSDIII may have low blood sugar (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and elevated blood levels of liver enzymes. As they get older, children with this condition typically develop an enlarged liver (hepatomegaly). Liver size usually returns to normal during adolescence, but some affected individuals develop chronic liver disease (cirrhosis) and liver failure later in life. People with GSDIII often have slow growth because of their liver problems, which can lead to short stature. In a small percentage of people with GSDIII, noncancerous (benign) tumors called adenomas may form in the liver.Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. These muscle problems can affect both heart (cardiac) muscle and the muscles that are used for movement (skeletal muscles). Muscle involvement varies greatly among affected individuals. The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood. Some people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart failure. Other people affected with GSDIIIa have no cardiac muscle problems.  https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
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
Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include . -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Creatine phosphokinase, elevated serum
MedGen UID:
69128
Concept ID:
C0241005
Finding
The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise . Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle disease) (HCK). Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Distal myopathy (DM), observed in one individual only Hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).

Professional guidelines

PubMed

Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG.
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546

Recent clinical studies

Etiology

Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X
J Hum Genet 2016 Jul;61(7):641-5. Epub 2016 Mar 17 doi: 10.1038/jhg.2016.24. PMID: 26984562
Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M
Clin Chim Acta 2015 Jan 15;439:162-7. Epub 2014 Oct 23 doi: 10.1016/j.cca.2014.10.016. PMID: 25451950
El-Karaksy H, El-Raziky MS, Anwar G, Mogahed E
J Pediatr Endocrinol Metab 2015 Jan;28(1-2):195-200. doi: 10.1515/jpem-2014-0145. PMID: 25153581
Ko JS, Moon JS, Seo JK, Yang HR, Chang JY, Park SS
J Hum Genet 2014 Jan;59(1):42-5. Epub 2013 Nov 21 doi: 10.1038/jhg.2013.117. PMID: 24257475
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG.
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546

Diagnosis

Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X
J Hum Genet 2016 Jul;61(7):641-5. Epub 2016 Mar 17 doi: 10.1038/jhg.2016.24. PMID: 26984562
El-Karaksy H, El-Raziky MS, Anwar G, Mogahed E
J Pediatr Endocrinol Metab 2015 Jan;28(1-2):195-200. doi: 10.1515/jpem-2014-0145. PMID: 25153581
El-Karaksy H, Anwar G, El-Raziky M, Mogahed E, Fateen E, Gouda A, El-Mougy F, El-Hennawy A
Arab J Gastroenterol 2014 Jun;15(2):63-7. Epub 2014 Feb 12 doi: 10.1016/j.ajg.2014.01.013. PMID: 25097048
Hershkovitz E, Forschner I, Mandel H, Spiegel R, Lerman-Sagie T, Anikster Y, Zeharia A, Moses S
Pediatr Endocrinol Rev 2014 Mar;11(3):318-23. PMID: 24716397
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG.
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546

Therapy

Preisler N, Laforêt P, Madsen KL, Prahm KP, Hedermann G, Vissing CR, Galbo H, Vissing J
Neurology 2015 Apr 28;84(17):1767-71. Epub 2015 Apr 1 doi: 10.1212/WNL.0000000000001518. PMID: 25832663
Derks TG, Smit GP
J Inherit Metab Dis 2015 May;38(3):545-50. Epub 2014 Aug 28 doi: 10.1007/s10545-014-9756-x. PMID: 25164784
El-Karaksy H, El-Raziky MS, Anwar G, Mogahed E
J Pediatr Endocrinol Metab 2015 Jan;28(1-2):195-200. doi: 10.1515/jpem-2014-0145. PMID: 25153581
Mayorandan S, Meyer U, Hartmann H, Das AM
Orphanet J Rare Dis 2014 Nov 28;9:196. doi: 10.1186/s13023-014-0196-3. PMID: 25431232Free PMC Article
Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, Bali D, Chen YT, Kishnani PS
Mol Genet Metab 2013 Feb;108(2):145-7. Epub 2012 Dec 27 doi: 10.1016/j.ymgme.2012.12.002. PMID: 23318145

Prognosis

El-Karaksy H, El-Raziky MS, Anwar G, Mogahed E
J Pediatr Endocrinol Metab 2015 Jan;28(1-2):195-200. doi: 10.1515/jpem-2014-0145. PMID: 25153581
Hershkovitz E, Forschner I, Mandel H, Spiegel R, Lerman-Sagie T, Anikster Y, Zeharia A, Moses S
Pediatr Endocrinol Rev 2014 Mar;11(3):318-23. PMID: 24716397
Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S
Mol Biol Rep 2013 Jul;40(7):4197-202. Epub 2013 May 8 doi: 10.1007/s11033-013-2500-z. PMID: 23649758
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG.
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546
Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M
J Hum Genet 2006;51(11):958-63. Epub 2006 Sep 19 doi: 10.1007/s10038-006-0045-x. PMID: 17047887

Clinical prediction guides

Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X
J Hum Genet 2016 Jul;61(7):641-5. Epub 2016 Mar 17 doi: 10.1038/jhg.2016.24. PMID: 26984562
Melis D, Rossi A, Pivonello R, Del Puente A, Pivonello C, Cangemi G, Negri M, Colao A, Andria G, Parenti G
Bone 2016 May;86:79-85. Epub 2016 Feb 23 doi: 10.1016/j.bone.2016.02.012. PMID: 26924264
Hershkovitz E, Forschner I, Mandel H, Spiegel R, Lerman-Sagie T, Anikster Y, Zeharia A, Moses S
Pediatr Endocrinol Rev 2014 Mar;11(3):318-23. PMID: 24716397
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
Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S
Mol Biol Rep 2013 Jul;40(7):4197-202. Epub 2013 May 8 doi: 10.1007/s11033-013-2500-z. PMID: 23649758

Recent systematic reviews

Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG.
Genet Med 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. PMID: 20631546
Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, Chen YT, Kishnani PS
J Hepatol 2007 Mar;46(3):492-8. Epub 2006 Nov 9 doi: 10.1016/j.jhep.2006.09.022. PMID: 17196294Free PMC Article

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