Glycogen storage disease type IV, is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. Glycogen Storage Disease Type IV is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease. It affects 1 in 800,000 individuals worldwide, with 3% of all Glycogen Storage Diseases being type IV.[2]
Contents
1Human pathology
2Variant types
2.1Fatal perinatal neuromuscular type
2.2Congenital muscular type
2.3Progressive hepatic type
2.4Non-progressive hepatic type
2.5Childhood neuromuscular type
3Diagnosis
4Terminology
5In animals
6References
7External links
Human pathology
It is a result of the absence of the glycogen branching enzyme, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The inability to breakdown glycogen in muscle cells causes muscle weakness. The probable end result is cirrhosis and death within 5 years. In adults, the activity of the enzyme is higher and symptoms do not appear until later in life.
Variant types
Fatal perinatal neuromuscular type
Excess fluid builds up around fetus and in the fetus’ body
Fetus have condition called akinesia deformation sequence
Causes decrease in fetal movement and stiffness of joints after birth
Infants have low muscle tone and muscle wasting
Do not survive past newborn stage due to weakened heart and lungs
Congenital muscular type
Develops in early infancy
Babies have dilated cardiomyopathy, preventing heart from pumping efficiently
Only survive a few months
Progressive hepatic type
Infants have difficulty gaining weight
Develop enlarged liver and cirrhosis, that is irreversible
High BP in hepatic portal vein and buildup of fluid in abdominal cavity
Die of liver failure in early childhood
Non-progressive hepatic type
Same as progressive, but liver disease is not as severe
Do not usually develop cirrhosis
Usually show muscle weakness and hypotonia
Survive into adulthood
Life expectancy varies on severity of symptoms
Childhood neuromuscular type
Develops in late childhood
Has myopathy and dilated cardiomyopathy
Varies greatly
Some have mild muscle weakness
Some have severe cardiomyopathy and die in early adulthood
Diagnosis
An assay of α 1,4 1,4 glucan transferases
Terminology
It is also known as:
Glycogenosis type IV
Glycogen branching enzyme deficiency
Polyglucosan body disease
Amylopectinosis
The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen.[3][4]
Mutations in GBE1 can also cause a milder disease in adults called adult polyglucosan body disease.[5]
In animals
In horses: it has been reported in American Quarter Horses and related breeds.
Main article: Glycogen branching enzyme deficiency
In cats: the disease has been reported in the Norwegian Forest Cat, where it causes skeletal muscle, heart, and CNS degeneration in animals greater than 5 months old. It has not been associated with cirrhosis or liver failure.[6]
References
^"Andersen Disease (GSD IV)".
^"Glycogen Storage Disease Type IV." Genetics Home Reference. U.S. National Library of Medicine, 10 Sept. 2015. Web. 27 Sept. 2015.
^Andersen's disease (Dorothy Hansine Andersen) at Who Named It?
^Andersen DH (1956). "Familial cirrhosis of the liver with storage of abnormal glycogen". Lab. Invest. 5 (1): 11–20. PMID 13279125.
^McKusick, Victor A.; Kniffin, Cassandra L. (May 2, 2016). "OMIM Entry 263570 - Polyglucosan body neuropathy, adult form". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 7 March 2017.
^Fyfe, JC, Giger, U, VanWinkle, TJ, Haskins, ME, Steinberg, SA, et al. 1992Glycogen storage disease type IV: Inherited deficiency of branching enzyme activity in catsPediatr Res32719725
External links
Media related to Glycogen storage disease type IV at Wikimedia Commons
Classification
D
ICD-10: E74.0
ICD-9-CM: 271.0
OMIM: 232500 263570607839
MeSH: D006011
DiseasesDB: 5303
External resources
eMedicine: med/910 ped/97
GeneReviews: Glycogen storage disease type IV
v
t
e
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (E73–E74, 271) Including glycogen storage diseases (GSD)
Sucrose, transport (extracellular)
Disaccharide catabolism
Congenital alactasia
Sucrose intolerance
Monosaccharide transport
Glucose-galactose malabsorption
Inborn errors of renal tubular transport (Renal glycosuria)
Fructose malabsorption
Hexose → glucose
Monosaccharide catabolism
Fructose:
Essential fructosuria
Fructose intolerance
Galactose / galactosemia:
GALK deficiency
GALT deficiency/GALE deficiency
Glucose ⇄ glycogen
Glycogenesis
GSD type 0 (glycogen synthase deficiency)
GSD type IV (Andersen's disease, branching enzyme deficiency)
Adult polyglucosan body disease (APBD)
Glycogenolysis
Extralysosomal:
GSD type III (Cori's disease, debranching enzyme deficiency)
GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency)
GSD type V (McArdle's disease, myophosphorylase deficiency)
GSD type IX (phosphorylase kinase deficiency)
Lysosomal (LSD):
GSD type II (Pompe's disease, glucosidase deficiency)
Glucose ⇄ CAC
Glycolysis
MODY 2/HHF3
GSD type VII (Tarui's disease, phosphofructokinase deficiency)
Triosephosphate isomerase deficiency
Pyruvate kinase deficiency
Gluconeogenesis
PCD
Fructose bisphosphatase deficiency
GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)
Pentose phosphate pathway
Glucose-6-phosphate dehydrogenase deficiency
Transaldolase deficiency
6-phosphogluconate dehydrogenase deficiency
Other
Hyperoxaluria
Primary hyperoxaluria
Pentosuria
Aldolase A deficiency
UpToDate Contents
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English Journal
Gene therapy for glycogen storage diseases.
Kishnani PS, Sun B, Koeberl DD.
Human molecular genetics. 2019 Jun;().
The focus of this review is the development of gene therapy for glycogen storage diseases (GSD). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly GSDs can be divided into types that affect liver or muscle, or both tissues. For
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.
Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M, Girisha KM.
Clinical dysmorphology. 2019 Jan;28(1)17-21.
Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype. We ascertained thr
amylopectinosis [am″ĭ-lo-pek´tĭ-no´sis] glycogen storage disease (type IV), a condition in which deficiency of the brancher enzyme amylo-1:4,1:6-transglucoside results in cirrhosis of the liver, hepatosplenomegaly, and progressive ...
Amylopectinosis definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now! ... amylopectinosis am·y·lo·pec·ti·no·sis (ām'ə-lō-pěk'tə-nō'sĭs) n. Glycogenosis due to an enzyme ...