The Gale Encyclopedia of Genetic Disorders (Volume 2, M-Z) by Stacey L. Blachford

By Stacey L. Blachford

Quantity 2. M-Z, Appendix, thesaurus, Index.

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Heart • Structural defects, most of which require surgery to correct. Central nervous systerm • Hydrocephalus, or abnormal accumulation of fluid within the brain. This is the most common type of brain abnormality and often is treated by placement of a shunt within the head to drain the fluid. • Small head size (microcephaly) • Structural or functional brain abnormalities • Mild to moderate mental retardation or learning disabilities later in life. Either may be present even in the absence of physical abnormalities.

Both these mutations are associated with a complete inability of the affected individual to produce acid maltase. Individuals with these mutations will invariably be affected with infantile (type a) acid maltase deficiency. prevent the production of acid maltase and lead to infantile (type a) acid maltase deficiency. The exact mutations responsible for the other 30% of the adult (type c) and the remainder of the childhood (type b) acid maltase deficiency cases have not yet been determined. Demographics Acid maltase deficiency is observed in approximately 1 in every 100,000 live births.

There have been reports that people who have nasal allergies have a higher incidence of the ACHOO syndrome. Therefore, it is sometimes assumed that medications that are used for allergies, such as antihistamines, could perhaps play a beneficial role in the ACHOO syn- Achoo Syndrome (Gale Group) 22 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Prognosis People with the ACHOO syndrome generally have the condition for life. There is no evidence showing that the ACHOO syndrome in any way affects a person’s life span.

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