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Glycogen storage disease, type II(GSD2)

MedGen UID:
5340
Concept ID:
C0017921
Disease or Syndrome
Synonyms: ACID ALPHA-GLUCOSIDASE DEFICIENCY; Acid maltase deficiency disease; Aglucosidase alfa; Alpha-1,4-glucosidase deficiency; Cardiomegalia glycogenica diffusa; Deficiency of alpha-glucosidase; Deficiency of lysosomal alpha-glucosidase; GLYCOGEN STORAGE DISEASE II; Glycogen storage disease type 2; Glycogen Storage Disease Type II (Pompe Disease); GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; GSD2; Pompe disease
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).
SNOMED CT: Deficiency of glucoamylase (124454007); Deficiency of gamma-amylase (124454007); Deficiency of exo-1,4-alpha-glucosidase (124454007); Deficiency of amyloglucosidase (124454007); Deficiency of acid maltase (124454007); Deficiency of glucan 1,4-alpha-glucosidase (124454007); Deficiency of maltase (124462004); Deficiency of glucosidosucrase (124462004); Deficiency of glucoinvertase (124462004); Deficiency of alpha-glucosidase (124462004); AMD - Acid maltase deficiency (237967002); alpha-Glucosidase deficiency (237967002); Glycogen storage disease type II (237967002); alpha-1,4-Glucosidase deficiency (237967002); Lysosomal alpha-1,4-glucosidase deficiency (237967002); Acid maltase deficiency (237967002); Glycogen storage disease, type II (237967002); Pompe's disease (237968007); Pompe disease (237968007); Generalized glycogenosis (267424007)
 
Gene: GAA
Cytogenetic location: 17q25.3
OMIM®: 232300
Orphanet: ORPHA365

Disease characteristics

Glycogen storage disease type II (GSD II), or Pompe disease, is classified by age of onset, organ involvement, severity, and rate of progression. Classic infantile-onset Pompe disease may be apparent in utero but more often presents in the first two months of life with hypotonia, generalized muscle weakness, cardiomegaly and hypertrophic cardiomyopathy, feeding difficulties, failure to thrive, respiratory distress, and hearing loss. Without treatment by enzyme replacement therapy (ERT), classic infantile-onset Pompe disease commonly results in death in the first year of life from progressive left ventricular outflow obstruction. The non-classic variant of infantile-onset Pompe disease usually presents within the first year of life with motor delays and/or slowly progressive muscle weakness, typically resulting in death from ventilatory failure in early childhood. Cardiomegaly can be seen, but heart disease is not a major source of morbidity. Late-onset (i.e., childhood, juvenile, and adult-onset) Pompe disease is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon in the late-onset form.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Nancy Leslie  |  Brad T Tinkle   view full author information

Additional descriptions

From OMIM
Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).  http://www.omim.org/entry/232300
From GHR
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset. The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life. The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood. The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.  http://ghr.nlm.nih.gov/condition/pompe-disease

Clinical features

Abnormality of the tongue
MedGen UID:
446339
Concept ID:
CN000153
Finding
Any abnormality of the tongue.
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Sign or Symptom
A finding referring to walking difficulties.
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Cerebral aneurysm
MedGen UID:
505729
Concept ID:
CN004387
Finding
The presence of a localized dilatation or ballooning of a cerebral artery.
Abnormal CNS myelination
MedGen UID:
760153
Concept ID:
CN167128
Finding
An abnormality of myelination of nerves in the central nervous system.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Diaphragmatic paralysis
MedGen UID:
505942
Concept ID:
CN005748
Finding
The presence of a paralyzed diaphragm.
Aplasia/Hypoplasia of the abdominal wall musculature
MedGen UID:
447243
Concept ID:
CN009150
Finding
Absence or underdevelopment of the abdominal musculature.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Pathologic Function
An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. . Symptoms of arrhythmias include: -Fast or slow heart beat. -Skipping beats. -Lightheadedness or dizziness. -Chest pain. -Shortness of breath . -Sweating . Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. . NIH: National Heart, Lung, and Blood Institute.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
hypertrophy or enlargement of the heart.
Shortened PR interval
MedGen UID:
105466
Concept ID:
C0520878
Finding
An electrocardiographic finding of an abnormally short PR interval. Thresholds for different age, gender, and patient populations exist. (CDISC)
Wolff-Parkinson-White syndrome
MedGen UID:
409600
Concept ID:
C1963282
Finding
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Cerebral aneurysm
MedGen UID:
505729
Concept ID:
CN004387
Finding
The presence of a localized dilatation or ballooning of a cerebral artery.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Finding
A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including: - Medicines. - Heat exhaustion. - Cancers. - Autoimmune diseases. Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.
Elevated serum creatine phosphokinase
MedGen UID:
505493
Concept ID:
CN002923
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Respiratory insufficiency due to muscle weakness
MedGen UID:
332136
Concept ID:
C1836141
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Dyspnea
MedGen UID:
505099
Concept ID:
CN001895
Finding
Difficult or labored breathing.
Emphysema
MedGen UID:
425087
Concept ID:
CN001898
Finding
Diaphragmatic paralysis
MedGen UID:
505942
Concept ID:
CN005748
Finding
The presence of a paralyzed diaphragm.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Respiratory insufficiency due to muscle weakness
MedGen UID:
332136
Concept ID:
C1836141
Finding
Firm muscles
MedGen UID:
342558
Concept ID:
C1850656
Finding
Macroglossia
MedGen UID:
504371
Concept ID:
CN000154
Finding
Increased length and width of the tongue.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Proximal muscle weakness
MedGen UID:
505578
Concept ID:
CN003345
Finding
A lack of strength of the proximal muscles.
Diaphragmatic paralysis
MedGen UID:
505942
Concept ID:
CN005748
Finding
The presence of a paralyzed diaphragm.
Aplasia/Hypoplasia of the abdominal wall musculature
MedGen UID:
447243
Concept ID:
CN009150
Finding
Absence or underdevelopment of the abdominal musculature.

Professional guidelines

PubMed

Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS
Genet Med 2006 May;8(5):267-88. doi: 10.109701.gim.0000218152.87434.f3. PMID: 16702877Free PMC Article

Recent clinical studies

Etiology

McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT
Mol Genet Metab 2007 Dec;92(4):325-35. Epub 2007 Aug 27 doi: 10.1016/j.ymgme.2007.07.006. [Epub ahead of print] PMID: 17723315

Diagnosis

McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT
Mol Genet Metab 2007 Dec;92(4):325-35. Epub 2007 Aug 27 doi: 10.1016/j.ymgme.2007.07.006. [Epub ahead of print] PMID: 17723315

Prognosis

McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT
Mol Genet Metab 2007 Dec;92(4):325-35. Epub 2007 Aug 27 doi: 10.1016/j.ymgme.2007.07.006. [Epub ahead of print] PMID: 17723315

Clinical prediction guides

McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT
Mol Genet Metab 2007 Dec;92(4):325-35. Epub 2007 Aug 27 doi: 10.1016/j.ymgme.2007.07.006. [Epub ahead of print] PMID: 17723315

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