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Phenylketonuria

Phenylketonuria: Introduction

Phenylketonuria: Phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Phenylketonuria.

Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase. More detailed information about the symptoms, causes, and treatments of Phenylketonuria is available below.

Symptoms of Phenylketonuria

Treatments for Phenylketonuria

  • Low-phenylalanine diet - a very strict diet to avoid particular substances.
    • Avoid high protein foods
    • Avoid aspartame - an artificial sweetener.
    • Avoid diet sodas - many contain aspartame
  • Strict diet during pregnancy - avoids damage to the fetus.
  • more treatments...»

Home Diagnostic Testing

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Wrongly Diagnosed with Phenylketonuria?

Phenylketonuria: Deaths

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Types of Phenylketonuria

Diagnostic Tests for Phenylketonuria

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Phenylketonuria: Complications

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Causes of Phenylketonuria

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Disease Topics Related To Phenylketonuria

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Less Common Symptoms of Phenylketonuria

Phenylketonuria: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Phenylketonuria

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Phenylketonuria: Research Doctors & Specialists

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Prognosis for Phenylketonuria

Prognosis for Phenylketonuria: With careful dietary supervision, children born with PKU can lead normal lives, and mothers who have the disease can produce healthy children. (Source: Genes and Disease by the National Center for Biotechnology)

Research about Phenylketonuria

Visit our research pages for current research about Phenylketonuria treatments.

Clinical Trials for Phenylketonuria

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Phenylketonuria include:

Statistics for Phenylketonuria

Phenylketonuria: Broader Related Topics

Phenylketonuria Message Boards

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Article Excerpts about Phenylketonuria

Phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. (Source: Genes and Disease by the National Center for Biotechnology)

Definitions of Phenylketonuria:

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). - (Source - Diseases Database)

A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency - (Source - WordNet 2.1)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Phenylketonuria as a "rare disease".
Source - Orphanet

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More information about Phenylketonuria

  1. Phenylketonuria: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Testing & Diagnosis
  7. Home Testing
  8. Types
  9. Deaths
  10. Complications
  11. Prognosis
 

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