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{{Phenylketonuria}}
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==Overview==
==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==
==Historical Perspective==
==Pathophysiology==
==Pathophysiology==
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[[Category:Metabolic disorders]]
[[Category:Genetic disorders]]
[[Category:Congenital disorders]]
[[Category:Pediatrics]]
[[Category:Pediatrics]]
[[Category:Neurology]]
[[Category:Neurology]]
[[Category:Metabolism]]
[[Category:Endocrinology]]
[[Category:Inborn errors of metabolism]]
 
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{{WH}}

Latest revision as of 13:11, 26 July 2016

Phenylketonuria Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Phenylketonuria from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Phenylketonuria On the Web

Most recent articles

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Review articles

CME Programs

Powerpoint slides

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American Roentgen Ray Society Images of Phenylketonuria

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X-ray X-rays
Ultrasound Echo & Ultrasound
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Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Phenylketonuria

CDC on Phenylketonuria

Phenylketonuria in the news

Blogs on Phenylketonuria

Directions to Hospitals Treating Phenylketonuria

Risk calculators and risk factors for 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.

Historical Perspective

Pathophysiology

Classification

Causes

Screening

Differential Diagnosis

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Primary Prevention

Secondary Prevention

Cost-effectiveness of Therapy

Future or Investigational Therapies

References

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