Phenylketonuria overview: Difference between revisions
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{{Phenylketonuria}} | {{Phenylketonuria}} | ||
{{CMG}}; {{AE}} | |||
''' | ==Overview== | ||
'''Phenylketonuria''' ('''PKU''') is an [[autosomal recessive]] [[genetic disorder]] characterized by a deficiency in the enzyme [[phenylalanine hydroxylase]] (PAH). This enzyme is necessary to metabolize the amino acid [[phenylalanine]] to the amino acid [[tyrosine]]. When PAH is deficient, phenylalanine accumulates and is converted into phenylketones, which are detected in the [[urine]]. | |||
Left untreated, this condition can cause problems with brain development, leading to progressive [[mental retardation]] and [[seizures]]. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can bring about a nearly total cure. | |||
==Historical Perspective== | |||
==Pathophysiology== | |||
==Classification== | |||
==Causes== | |||
==Screening== | |||
==Differential Diagnosis== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Natural History, Complications and Prognosis== | |||
==Diagnosis== | ==Diagnosis== | ||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | ==Treatment== | ||
===Medical Therapy=== | |||
== | ===Primary Prevention=== | ||
===Secondary Prevention=== | |||
== | ===Cost-effectiveness of Therapy=== | ||
===Future or Investigational Therapies=== | |||
==References== | |||
{{Reflist|2}} | |||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Neurology]] | [[Category:Neurology]] | ||
[[Category: | [[Category:Endocrinology]] | ||
{{WS}} | |||
{{WH}} | |||
Latest revision as of 13:11, 26 July 2016
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Phenylketonuria Microchapters |
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Diagnosis |
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Case Studies |
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Phenylketonuria On the Web |
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American Roentgen Ray Society Images of Phenylketonuria |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylketones, which are detected in the urine.
Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can bring about a nearly total cure.