Principles of Medical Therapy in Pregnancy pp 286-289 | Cite as
Maternal Hyperphenylalaninemia
Chapter
Abstract
The hyperphenylalaninemias result from the impaired conversion of phenylalanine to tyrosine. Classic phenylketonuria (PKU) is the most widely known and was originally identified in 1934 by Folling. If untreated, this disorder usually results in mental retardation and other manifestations of neurologic damage. In recent years, other forms of hyperphenylalaninemia have been described (see Table 27-1).
Keywords
Newborn Screening Esophageal Atresia Dietary Therapy Nucleic Acid Metabolism Newborn Screening Program
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References
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© Plenum Publishing Corporation 1985