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Andersen disease
This is a Rare medical condition.
A glycogen storage disease which is of severe nature.
Approximately 3% of all the glycogen storage diseases .
Synonyms
- Amylopectinosis
- Glycogen storage disease due to glycogen branching enzyme deficiency
- GSD due to glycogen branching enzyme deficiency
- GSD type 4
- GSD type IV
- Glycogen storage disease type 4
Symptoms and Signs of Andersen disease
Very Common Symptoms and Signs (80%-98%)
- Abnormal cardiomyocyte morphology
- Abnormal muscle glycogen content
- Abnormal neuron branching
- Decreased liver function
- Generalized abnormality of skin
- Hepatomegaly
Common Symptoms and Signs (30%-79%)
- Dilated cardiomyopathy
- Elevated hepatic transaminase
- Failure to thrive
- Generalized hypotonia
- Hypoalbuminemia
- Motor delay
- Myopathy
Occasional Symptoms and Signs (5%-29%)
- Ascites
- Cirrhosis
- Congestive heart failure
- Esophageal varix
- Fetal akinesia sequence
- Flexion contracture
- Hepatic failure
- Hepatosplenomegaly
- Nonimmune hydrops fetalis
- Polyhydramnios
- Portal hypertension
- Prolonged partial thromboplastin time
- Prolonged prothrombin time
- Respiratory distress
- Respiratory insufficiency
- Severe muscular hypotonia
- Skeletal muscle atrophy
