By Stacey Blachford
Publication via Blachford, Stacey
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Extra info for The Gale encyclopedia of genetic disorder A-L
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OMIM—Online Mendelian Inheritance in Man. 232300Ͼ (February 12, 2001). The Pompe’s Disease Page. htmlϾ (February 12, 2001). ” Genzyme Corporation Press Release (October 5, 2000). ”Duke University Medical Center Press Release (May 24, 1999). Prognosis Acid maltase deficiency of all three types is 100% fatal. Individuals affected with infantile acid maltase deficiency generally die from heart or respiratory failure prior to age one. Individuals affected with childhood acid maltase deficiency generally die from respiratory failure between the ages of three and 24.
There is very little data on the differences of the occurrence of acromegaly among various ethnic and racial lines. The few studies that have been done show no real difference among racial or ethnic groups, with acromegaly showing up equally in Caucasians, AfricanAmericans, and Asian-Americans. Signs and symptoms The signs and symptoms of acromegaly can range from striking to almost unseen. The most visible signs of the condition are greatly increased height and coarse facial features. People with acromegaly who have not received treatment early in the course of their condition have grown to be well over seven feet tall.
Both the father and brother would sneeze twice when going from an area of darkness to an area of light. At four weeks of age, the father’s daughter also started to sneeze whenever she was moved into bright sunlight. Because of the relatively benign nature of the condition, there has been no reported scientific work trying to locate the gene responsible for the syndrome. Demographics PERIODICALS American Academy of Pediatrics Committee on Genetics. ” Pediatrics 95, no 3 (March 1995): 443-51. ORGANIZATIONS Little People of America, Inc.
