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Diseases » Phenylketonuria » Summary

What is Phenylketonuria?

What is 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.
  • 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
  • Phenylketonuria: 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

Phenylketonuria: Introduction

Types of Phenylketonuria:

Types of Phenylketonuria:

Broader types of Phenylketonuria:

How many people get Phenylketonuria?

Prevalance of Phenylketonuria: 1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US, Genetics Home Reference website
Prevalance Rate of Phenylketonuria: approx 1 in 10,000 or 0.01% or 27,200 people in USA [about data]
Incidence (annual) of Phenylketonuria: 1 of every 10,000 infants in the United States (NIDCD)
Incidence Rate of Phenylketonuria: approx 1 in 10,000 or 0.01% or 27,200 people in USA [about data]

How serious is Phenylketonuria?

Complications of Phenylketonuria: see complications of Phenylketonuria
Prognosis of 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)

What causes Phenylketonuria?

Causes of Phenylketonuria: see causes of Phenylketonuria

What are the symptoms of Phenylketonuria?

Symptoms of Phenylketonuria: see symptoms of Phenylketonuria

Complications of Phenylketonuria: see complications of Phenylketonuria

Onset of Phenylketonuria: usually within months of birth

Can anyone else get Phenylketonuria?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
More information: see contagiousness of Phenylketonuria
Inheritance: see inheritance of Phenylketonuria

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Phenylketonuria: Testing

Diagnostic testing: see tests for Phenylketonuria.

Misdiagnosis: see misdiagnosis and Phenylketonuria.

How is it treated?

Treatments for Phenylketonuria: see treatments for Phenylketonuria
Research for Phenylketonuria: see research for Phenylketonuria

Name and Aliases of Phenylketonuria

Main name of condition: Phenylketonuria

Class of Condition for Phenylketonuria: genetic

Other names or spellings for Phenylketonuria:

PKU, Phenylalanine hydroxylase deficiency, Folling disease, phenylalaninemia, phenylpyruvic oligophrenia, phenylalanine hydroxylase deficiency disease, phenylketonuria I, deficiency disease, phenylalanine hydroxylase, classical phenylketonuria

Følling's syndrome, Folling's disease, PKU type 1, Phenylketonuria 1 Source - Diseases Database

Source - WordNet 2.1

Phenylketonuria: Related Conditions

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


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