Phenylketonuria

Roseanna Partridge

@rosksj

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for phenylketonuria (PKU), a genetic disorder that results in the inability to metabolize the amino acid phenylalanine.

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Roseanna Partridge

@rosksj

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for phenylketonuria (PKU), a genetic disorder that results in the inability to metabolize the amino acid phenylalanine.

Phenylketonuria - NORD

Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (e.g., during routine neonatal screening). PKU is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine.
http://rarediseases.org/rare-diseases/phenylketonuria
Phenylketonuria - MedlinePlus

Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability.
https://medlineplus.gov/phenylketonuria.html
Phenylketonuria (PKU) - MayoClinic

A genetic mutation causes phenylketonuria. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process an amino acid called phenylalanine. A dangerous buildup of phenylalanine can develop when a person with PKU eats foods that are high in protein, such as milk, cheese, nuts or meat.
http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/causes/con-20026275
Phenylketonuria (PKU): Healthwise Medical Information - eMedicineHealth

Information on Phenylketonuria (PKU). Includes topic overview and related information.
http://www.emedicinehealth.com/phenylketonuria_pku-health/article_em.htm
Phenylketonuria (PKU) Symptoms and Information - Patient Education Center

Phenylketonuria (PKU) . Multimedia health information for patients, caregivers and providers supplied by Harvard Medical School.
http://www.patienteducationcenter.org/articles/phenylketonuria-pku/
Phenylketonuria - Genetics Home Reference

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. Learn more here.
http://ghr.nlm.nih.gov/condition/phenylketonuria
Phenylketonuria - MedlinePlus Medical Encyclopedia

Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
https://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
Phenylketonuria (PKU) - Mayo Clinic

Phenylketonuria (PKU) - Learn about symptoms and treatment (including a PKU diet) of this rare inherited disorder.
http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275
Phenylketonuria - Wikipedia, the Free Encyclopedia

Wikipedia's information about phenylketonuria.
https://en.wikipedia.org/wiki/Phenylketonuria
What is PKU - PKU

Learn what PKU is and how you can help to manage it.
http://www.pku.com/understanding-pku/what-is-pku/
Phenylketonuria: Causes, Symptoms, and Diagnosis - Healthline

Find information on phenylketonuria causes, symptoms, diagnosis, and treatment.
http://www.healthline.com/health/phenylketonuria
Phenylketonuria: Read About Diet Strategies - Medicine Net

Phenylketonuria (PKU), an inherited disorder in which signs and symptoms vary from mild to severe such as seizures, developmental delay, behavioral problems, and psychiatric disorders.
http://www.medicinenet.com/phenylketonuria/article.htm
What is PKU? - NSPKU

Phenylketonuria (PKU) is a rare inherited condition in which there is a build up of phenylalanine in the body. Phenylalanine is a natural substance; it is a building block of protein. PKU is looked for in all newborns in the United Kingdom by measuring phenylalanine levels in the heel-prick blood test. All babies should have this test as it allows treatment to start early in life.
http://www.nspku.org/information/whatispku
phenylketonuria Facts, Information, Pictures - Encyclopedia

phenylketonuria (PKU), inherited metabolic disorder caused by a deficiency in a specific enzyme (phenylalanine hydroxylase).
http://www.encyclopedia.com/topic/phenylketonuria.aspx
Phenylketonuria - NHS Choices

Phenylketonuria (PKU) is a rare genetic condition that's present from birth (congenital). The body is unable to break down a substance called phenylalanine.
http://www.nhs.uk/conditions/Phenylketonuria/Pages/Introduction.aspx

Comments

Phenylketonuria
Other names	Phenylalanine hydroxylase deficiency, PAH deficiency, Følling disease^[1]

Phenylalanine
Specialty	Medical genetics, pediatrics, dietetics
Symptoms	Without treatment intellectual disability, seizures, behavioral problems, mental disorders, musty odor^[1]
Usual onset	At birth^[2]
Types	Classic, variant^[1]
Causes	Genetic (autosomal recessive)^[1]
Diagnostic method	Newborn screening programs in many countries^[3]
Treatment	Diet low in foods that contain phenylalanine; special supplements^[2]
Medication	Sapropterin dihydrochloride,^[2] pegvaliase^[4]
Prognosis	Normal health with treatment^[5]
Frequency	~1 in 12,000 newborns^[6]

Source : Wikipedia under CC-BY-SA license

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Phenylketonuria - NORD

Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (e.g., during routine neonatal screening). PKU is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine.
http://rarediseases.org/rare-diseases/phenylketonuria
Phenylketonuria - MedlinePlus

Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability.
https://medlineplus.gov/phenylketonuria.html
Phenylketonuria (PKU) - MayoClinic

A genetic mutation causes phenylketonuria. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process an amino acid called phenylalanine. A dangerous buildup of phenylalanine can develop when a person with PKU eats foods that are high in protein, such as milk, cheese, nuts or meat.
http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/causes/con-20026275
Phenylketonuria (PKU): Healthwise Medical Information - eMedicineHealth

Information on Phenylketonuria (PKU). Includes topic overview and related information.
http://www.emedicinehealth.com/phenylketonuria_pku-health/article_em.htm
Phenylketonuria (PKU) Symptoms and Information - Patient Education Center

Phenylketonuria (PKU) . Multimedia health information for patients, caregivers and providers supplied by Harvard Medical School.
http://www.patienteducationcenter.org/articles/phenylketonuria-pku/
Phenylketonuria - Genetics Home Reference

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. Learn more here.
http://ghr.nlm.nih.gov/condition/phenylketonuria
Phenylketonuria - MedlinePlus Medical Encyclopedia

Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
https://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
Phenylketonuria (PKU) - Mayo Clinic

Phenylketonuria (PKU) - Learn about symptoms and treatment (including a PKU diet) of this rare inherited disorder.
http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275
Phenylketonuria - Wikipedia, the Free Encyclopedia

Wikipedia's information about phenylketonuria.
https://en.wikipedia.org/wiki/Phenylketonuria
What is PKU - PKU

Learn what PKU is and how you can help to manage it.
http://www.pku.com/understanding-pku/what-is-pku/
Phenylketonuria: Causes, Symptoms, and Diagnosis - Healthline

Find information on phenylketonuria causes, symptoms, diagnosis, and treatment.
http://www.healthline.com/health/phenylketonuria
Phenylketonuria: Read About Diet Strategies - Medicine Net

Phenylketonuria (PKU), an inherited disorder in which signs and symptoms vary from mild to severe such as seizures, developmental delay, behavioral problems, and psychiatric disorders.
http://www.medicinenet.com/phenylketonuria/article.htm
What is PKU? - NSPKU

Phenylketonuria (PKU) is a rare inherited condition in which there is a build up of phenylalanine in the body. Phenylalanine is a natural substance; it is a building block of protein. PKU is looked for in all newborns in the United Kingdom by measuring phenylalanine levels in the heel-prick blood test. All babies should have this test as it allows treatment to start early in life.
http://www.nspku.org/information/whatispku
phenylketonuria Facts, Information, Pictures - Encyclopedia

phenylketonuria (PKU), inherited metabolic disorder caused by a deficiency in a specific enzyme (phenylalanine hydroxylase).
http://www.encyclopedia.com/topic/phenylketonuria.aspx
Phenylketonuria - NHS Choices

Phenylketonuria (PKU) is a rare genetic condition that's present from birth (congenital). The body is unable to break down a substance called phenylalanine.
http://www.nhs.uk/conditions/Phenylketonuria/Pages/Introduction.aspx

Phenylketonuria
Other names	Phenylalanine hydroxylase deficiency, PAH deficiency, Følling disease^[1]

Phenylalanine
Specialty	Medical genetics, pediatrics, dietetics
Symptoms	Without treatment intellectual disability, seizures, behavioral problems, mental disorders, musty odor^[1]
Usual onset	At birth^[2]
Types	Classic, variant^[1]
Causes	Genetic (autosomal recessive)^[1]
Diagnostic method	Newborn screening programs in many countries^[3]
Treatment	Diet low in foods that contain phenylalanine; special supplements^[2]
Medication	Sapropterin dihydrochloride,^[2] pegvaliase^[4]
Prognosis	Normal health with treatment^[5]
Frequency	~1 in 12,000 newborns^[6]

Source : Wikipedia under CC-BY-SA license

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Phenylketonuria

Causes, symptoms, diagnostic procedures and criteria, treatments and prognoses for phenylketonuria (PKU), a genetic disorder that results in the inability to metabolize the amino acid phenylalanine.

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