Have a symptom?
See what questions
a doctor would ask.


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

Home medical testing related to Phenylketonuria:

Wrongly Diagnosed with Phenylketonuria?

Phenylketonuria: Deaths

Read more about Deaths and Phenylketonuria.

Types of Phenylketonuria

Diagnostic Tests for Phenylketonuria

Test for Phenylketonuria in your own home

Click for Tests

Phenylketonuria: Complications

Review possible medical complications related to Phenylketonuria:

Causes of Phenylketonuria

Read more about causes of Phenylketonuria.

More information about causes of Phenylketonuria:

Disease Topics Related To Phenylketonuria

Research the causes of these diseases that are similar to, or related to, Phenylketonuria:

Less Common Symptoms of Phenylketonuria

Phenylketonuria: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Phenylketonuria

Interstitial cystitis an under-diagnosed bladder condition: The medical condition of interstitial cystitic is a bladder condition that can be misdiagnosed as more »

Phenylketonuria: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

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 lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on for Phenylketonuria include:

Statistics for Phenylketonuria

Phenylketonuria: Broader Related Topics

Phenylketonuria Message Boards

Related forums and medical stories:

User Interactive Forums

Read about other experiences, ask a question about Phenylketonuria, or answer someone else's question, on our message boards:

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

Related Phenylketonuria Info

Videos about Phenylketonuria


Forum Discussions about Phenylketonuria

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

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise