Andersen's disease (Dorothy Hansine Andersen)

Alternative eponyms

Related people

An inborn disorder of the endocrine glands.

Description

An inborn disorder of the endocrine glands with error of glycogen metabolism due to a 1,4-glucan-alpha 1,4-glucan-6-glucosyl transferase deficiency. The glycogen is abnormal, having long outer chains similar to those in amylopectin. Infants born with GSD IV appear normal at birth, but are diagnosed with enlarged livers and failure to thrive within their first year, with full manifestations between 7th and 12th months. They develop muscle hypotonia, retarded growth, splenomegaly, and progressive hepatomegaly. Infants who survive beyond their first birthday develop cirrhosis of the liver by age 3-5 and die as a result of chronic liver failure. Very rare and difficult to identify. Inheritance is autosomal recessive.

On suggestion by Sidney Farber the disease has also been called mucoviscovidosis. In 1945 at an autopsy he had found distribution of abnormities in the mucous secretions. The eponyms Andersen's triad, Fanconi's syndrome, Landsteiner-Fanconi-Andersen's syndrome and some others are to be found in historical surveys and medical dictionaries.

Bibliography

  • D. H. Andersen:
    Familial cirrhosis of the liver with storage of abnormal glycogen.
    Laboratory Investigation, Baltimore, 1956, 5: 11-20.

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