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Glycogen storage disease, type IV(GSD4)

MedGen UID:
6642
Concept ID:
C0017923
Disease or Syndrome
Synonyms: Adult Polyglucosan Body Disease; Amylopectinosis; Andersen disease; Brancher deficiency; Cirrhosis, familial, with deposition of abnormal glycogen; GBE1 DEFICIENCY; GBE1-Related Disorders; Glycogen branching enzyme deficiency; GLYCOGEN STORAGE DISEASE IV; Glycogen storage disease type 4; Glycogen Storage Disease Type IV; Glycogenosis 4; GLYCOGENOSIS IV; GSD 4; GSD IV; GSD4
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: Branching enzyme deficiency (11179002); Glycogen storage disease type IV (11179002); Andersen disease (11179002); Glycogenosis, type 4 (11179002); Glycogen storage disease, type IV (11179002); 1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency (11179002); Brancher deficiency glycogen storage disease (11179002); Amylopectinosis (11179002); Andersen's disease (11179002); GSD IV (11179002); Branching-transferase deficiency glycogenosis (11179002); Deficiency of branching enzyme (124267007); Deficiency of amylo-(1,4,6)-transglycosylase (124267007); Deficiency of 1,4-alpha-glucan branching enzyme (124267007)
 
Gene (location): GBE1 (3p12.2)
OMIM®: 232500

Disease characteristics

Excerpted from the GeneReview: Glycogen Storage Disease Type IV
The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence (FADS) with decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Pilar L Magoulas  |  Ayman W El-Hattab   view full author information

Additional description

From GHR
Glycogen storage disease type IV (GSD IV) 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. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms. The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles. The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months. The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood. The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms. The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.  http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv

Clinical features

Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Sign or Symptom
Slower than normal rate of weight increase.
Tubulointerstitial fibrosis
MedGen UID:
505835
Concept ID:
CN004937
Finding
Fibrosis that involves the tubules and interstitial tissue of the kidney.
Reduced tendon reflexes
MedGen UID:
427865
Concept ID:
CN001205
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Hydrops fetalis
MedGen UID:
504951
Concept ID:
CN001623
Finding
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Finding
A disorder characterized by accumulation of serous or hemorrhagic fluid in the peritoneal cavity.
Cirrhosis
MedGen UID:
504826
Concept ID:
CN001275
Finding
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Hepatic failure
MedGen UID:
504829
Concept ID:
CN001280
Finding
Portal hypertension
MedGen UID:
504834
Concept ID:
CN001290
Finding
Increased pressure in the portal vein.
Hepatosplenomegaly
MedGen UID:
504839
Concept ID:
CN001310
Finding
Simultaneous enlargement of the liver and spleen.
Esophageal varix
MedGen UID:
505067
Concept ID:
CN001845
Finding
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Portal hypertension
MedGen UID:
504834
Concept ID:
CN001290
Finding
Increased pressure in the portal vein.
Cardiomyopathy
MedGen UID:
504883
Concept ID:
CN001491
Finding
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Edema
MedGen UID:
504667
Concept ID:
CN000907
Finding
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hydrops fetalis
MedGen UID:
504951
Concept ID:
CN001623
Finding
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Abnormal levels of creatine kinase in blood
MedGen UID:
808291
Concept ID:
CN221676
Finding
Hepatosplenomegaly
MedGen UID:
504839
Concept ID:
CN001310
Finding
Simultaneous enlargement of the liver and spleen.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
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.
Skeletal muscle atrophy
MedGen UID:
505481
Concept ID:
CN002890
Finding
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding

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