Disease Information for Amylopectinosis (Andersen's) disease (GSD IV)

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Clinical Manifestations
Signs & Symptoms
Failure to Thrive
Splenomegaly
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Fasting hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Abnormal Lab Findings - Increased
Lactic acid/Lactate (Lab)
Diagnostic Test Results
Pathology
BX/Liver biopsy/Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Cirrhosis
Hypoglycemia
Hypoglycemia, infantile
Heart Failure in a Child
Disease Synergy - Causes
Synergy/Specific Diet Items
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Amylo 1,4-1,6 transglucosidase def
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Gene Locus 3p12
Pathophysiology/Gene locus chromosome 3
Pathophysiology/Gene locus Chromosome 3p
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Generalized amylopectin deposition effect
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Glycogen metabolic defects (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
Synonyms
Synonym
1,4,alpha glucan 6 alpha glucosyltransferase deficiency, Amylopectinoses, Amylopectinosis, Andersen, ANDERSEN DIS, ANDERSEN DISEASE, ANDERSENS DIS, Andersens Disease, Andersen's disease, BRANCHER DEFIC, Brancher Deficiencies, BRANCHER DEFICIENCY, BRANCHER DEFICIENCY AMYLOPECTINOSIS, Brancher deficiency glycogen storage disease, brancher deficiency glycogenosis, brancher enzyme deficiency, brancher glycogen storage disease, Branching enzyme deficiency, Branching transfer def glycog, Branching transferase deficiency glycogenosis, Branching transferase deficiency glycogenosis (disorder), CIRRHOSIS FAMILIAL WITH DEPOSITION OF ABNORMAL GLYCOGEN, DEFIC BRANCHER, Deficiencies Brancher, Deficiency Brancher, deficiency brancher enzyme, Deficiency of 1,4 alpha glucan branching enzyme, Deficiency of 1,4 alpha glucan branching enzyme (disorder), Deficiency of amylo (1,4,6) transglycosylase, Deficiency of branching enzyme, Disease Andersen, Disease Andersen's, GBE1 DEFICIENCY, GLYCOGEN BRANCHING ENZYME DEFICIENCY, GLYCOGEN STORAGE DIS IV, GLYCOGEN STORAGE DISEASE IV, Glycogen storage disease type IV, Glycogen storage disease type IV (disorder), GLYCOGENOSIS 04, Glycogenosis 4, GLYCOGENOSIS IV, Glycogenosis type 4, Glycogenosis type IV, GSD IV, Type IV Glycogenosis, Synonym/Andersen's disease, Synonym/Brancher enzyme defect, Synonym/Brancher glycogenosis, Synonym/GSD IV/Glycogen storage disease IV, Synonym/Type 4 glycogenosis
Definition

Synonyms: Andersen Disease (GSD IV); Amylopectinosis;

Andersen Glycogenosis; Brancher Deficiency; Branching Enzyme Deficiency; Glycogen Storage Disease IV; Glycogenosis Type IV;

Discussion: Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as "glycogen storage diseases;" Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body"s use as energy; Glycogen storage diseases are characterized by deficiencies of certain enzymes involved in the metabolism of glycogen, leading to an accumulation of abnormal forms or amounts of glycogen in various parts of the body, particularly the liver and muscle; Andersen disease is also known as glycogen storage disease (GSD) type IV; It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues; In most affected individuals, symptoms and findings become evident in the first months of life; Such features typically include failure to grow and gain weight at the expected rate (failure to thrive) and abnormal enlargement of the liver and spleen (hepatosplenomegaly); In such cases, the disease course is typically characterized by progressive liver (hepatic) scarring (cirrhosis) and liver failure, leading to potentially life-threatening complications; In rare cases, however, progressive liver disease may not develop; In addition, several neuromuscular variants of Andersen disease have been described that may be evident at birth, in late childhood, or adulthood; The disease is inherited as an autosomal recessive trait. [NORD 2005]

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External Links Related to Amylopectinosis (Andersen's) disease (GSD IV)
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