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Etymology: Dorothy Hansine Andersen, American pediatrician and pathologist, 1901-1963
a rare glycogen storage disease characterized by a genetic deficiency of branching enzyme (alpha-1:4, alpha 1:6 transglucosidase), causing the deposition in tissues of abnormal glycogen with long inner and outer chains. Infants with the disease are normal at birth but fail to thrive and soon show hepatomegaly, splenomegaly, and hypotonia of muscle associated with the progressive development of cirrhosis or heart failure of unknown mechanisms. Diagnosis is by enzyme assays of leukocytes and fibroblasts. There is no specific therapy for the disease, which is usually fatal in the first few years of life. Also called amylopectinosis,brancher glycogen storage disease,glycogen storage disease type IV.
Andersen's disease(1) Glycogen storage disease (GSD) IV, MIM 232500.
(2) Uncertain; an obsolete term described in 1924, also called Clarke-Hadefield syndrome or pancreatic infantilism; most probably cystic fibrosis, MIM 219700.