Phenylketonuria

Phenylketonuria (PKU)
PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods. Proteins are made up of building blocks called amino acids; in PKU, the body cannot break down the amino acid phenylalanine.

Phenylketonuria
Alternate Names : PKU, Neonatal phenylketonuria
Definition ...

Phenylketonuria
From Healthscout's partner site on breast cancer, MyBreastCancerNetwork.com ...

Phenylketonuria Related Supplements
Tyrosine
Use Pill Finder Find it Now
Pill Identifier on RxList ...

Phenylketonuria
Medical Dictionary
Definition of medical terminology for Phenylketonuria.

What is phenylketonuria?
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.

Phenylketonuria (PKU)
What is phenylketonuria (PKU)?
Phenylketonuria (pronounced fee-nill-key-toe-NURR-ee-uh) or PKU is an inherited disorder of metabolism that can cause intellectual and developmental disabilities (IDDs) if not treated.

Phenylketonuria (PKU) is a rare genetic condition that is present from birth (congenital). In PKU, the body is unable to break down a chemical called phenylalanine which then builds up in the blood and in the brain.

Home
Phenylketonuria
The more you know about your health, the better prepared you are to make informed healthcare decisions. Our health library gives you the information you need to take charge of your health.
Conditions ...

PKU - Phenylketonuria
Overview, Causes, & Risk Factors
Symptoms & Signs
Diagnosis & Tests
Prevention & Expectations
Treatment & Monitoring
Attribution ...

Phenylketonuria is caused by an enzyme defect in the liver. Normally, the liver produces an enzyme that breaks down phenylalanine. Phenylalanine is a compound found in many foods.

Phenylketonuria (PKU) is caused by a biochemical abnormality which is inherited by a child from both parents. At birth the baby appears to be quite normal, but the condition can be discovered by a screening blood test.

Phenylketonuria is a hereditary disorder in which the amino acid phenylalanine isn't properly metabolized. This amino acid occurs in significant amounts in all proteins, including breast milk, standard baby formulas, eggs, meat, fish and beans.

Phenylketonuria (PKU) Test
Test Overview
A phenylketonuria (PKU) Opens New Window test is done to check whether a newborn baby has the enzyme Opens New Window needed to use phenylalanine in his or her body.

Phenylketonuria
Phenylketonuria (also referred to as PKU) is a genetic disorder that is caused by the inability of the body to break down the amino acid, phenylalanine - essential for normal growth in infants and children.

Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
Phimosis ...

phenylketonuria (pku)
Overview: Phenylketonuria (PKU), also called Folling's disease, is an inherited disorder that occurs when patients are missing an enzyme that is needed to process a protein called phenylalanine.

phenylketonuria PKU. An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development.

Phenylketonuria (PKU) is characterized by an inability to metabolize an amino acid called phenylalanine and causes mental retardation unless a specialized phenylalanine-free, low-protein diet is put in place.

phenylketonuria(PKU)
PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. It is estimated that one baby in 10,000 to 25,000 is born with PKU in the United States.

Phenylketonuria (PKU)
PKU is a recessive disorder which occurs in about one in 10,000 to 15,000 live births and is caused by the absence of the enzyme phenylalanine hydroxylase.

Phenylketonuria is an example of an inherited metabolic disorder characterized by an inability to break down one of the building blocks of protein, the amino acid phenylalanine.

Phenylketonuria (PKU)
Introduction
Phenylketonuria (fen-ul-ke-to-NU-re-uh) is a birth defect in which a mutation occurs in a gene containing instructions for making the enzyme needed to break down the amino acid phenylalanine.

Phenylketonuria (PKU) is an inherited metabolic disorder in which a person does not have the liver enzyme needed to break down phenylalanine, an amino acid found in proteins and some artificial sweeteners.

Phenylketonuria - inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine,...

Phenylketonuria test
Capillary sample
Reviewed last on: 5/1/2007
Rachel A. Lewis, MD, FAAP, Columbia University Pediatric Faculty Practice, New York, NY. Review provided by VeriMed Healthcare Network.

Phenylketonuria: a disorder in which the amino acid phenylalanine builds up in the blood, causing mental problems.
Sickle cell anemia: a hereditary blood disease more common in African Americans.

Phenylketonuria (PKU)
Phenylketonuria is a clinical syndrome of intellectual disability with cognitive and behavioral abnormalities caused by elevated serum phenylalanine. The primary cause is deficient phenylalanine hydroxylase activity.

Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by ... Tyrosinemia is caused by the shortage (deficiency) of one of the enzymes ...
Full article ...

Phenylketonuria (PKU) Causes, Symptoms And Treatment
Early symptoms of PKU in a baby include: A musty odor to the skin, hair, and urine.

Phenylketonuria
PKU is an inherited condition, passed along as a recessive trait. There are over 100 different variations of the gene...
Pyloric Stenosis ...

phenylketonuria (PKU) - an inherited disease in which the body cannot metabolize a protein called phenylalanine.
phototherapy - special lights used to treat jaundice.
port wine stain - a flat, pink, red, or purple colored birthmark.

Phenylketonuria (PKU) is an inherited disorder in which an enzyme (usually phenylalanine hydroxylase) crucial to the appropriate processing of the amino acid, phenylalanine is totally absent or drastically deficient.

Phenylketonuria also known as PKU
This is an inherited abnormality in which phenylalanine cannot be broken down in the body. This can lead to severe mental deficiency if not detected and treated
Phenytoin ...

Phenylketonuria: PKU is an inherited disorder that, if untreated, causes profound mental retardation as well as other medical problems.
Phonation: Phonation is the production of speech.

PKU or phenylketonuria is a condition that affects about 1 in 15,000 people. Those with PKU lack the enzyme phenylalanine hydroxylase, which allows the body to turn ingested phenylalanine into the amino acid tyrosine.

Uncontrolled phenylketonuria (PKU) in the mother
Methylmercury poisoning
Congenital rubella
Congenital toxoplasmosis
Congenital cytomegalovirus (CMV)
Use of certain drugs during pregnancy, especially alcohol and phenytoin
Malnutrition ...

People who have phenylketonuria (PKU) should avoid foods and drinks that have aspartame, which contains phenylalanine.1
Do artificial sweeteners raise blood sugar?

Phenylketonuria
Phenylketonuria (PKU)
Phenylketonuria (PKU) Test - Medical Test
Phenytek - Medication
phenytoin (oral) - Medication
Phenytoin Embryopathy
Phenytoin for epilepsy - Medication
Phenytoin Sodium, Prompt - Medication ...

Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched-chain Organic acidemias (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, ...

Phenylketonuria (PKU) an inherited disorder resulting in the inability to process the amino acid, phenylananine. If not treated, the disorder may result in mental retardation. Treatment is a diet low in phenylalanine.

Phenylketonuria
Phenylketonuria (PKU)
Phenytoin Embryopathy
Pheochromocytoma
Pheochromocytoma and Paraganglioma Treatment (PDQ®): Treatment - Health Professional Information [NCI]
Phlebotomy
Phobias
Phocomelia Syndrome
Phosphate Diabetes ...

Phenylketonuria
PHHI see Congenital Hyperinsulinism
Phobia see Anxiety disorders
PHP see Albright Hereditary Osteodystrophy
Pick's disease see Frontotemporal Lobar Degeneration, including Frontotemporal Dementia ...

People with phenylketonuria (PKU), a genetic condition, should not use it. Studies have not reported any serious health dangers in otherwise healthy individuals, but some people may be sensitive to aspartame.
Sucralose (Splenda).

Phenylketonuria ... spontaneous abortions
PIBIDS syndrome ... low birth weight
Placenta conditions ... fetal death, premature birth, stillbirth
Placenta previa ... vaginal bleeding in pregnancy
Podder-Tolmie syndrome ...

Metabolic abnormalities found in diabetes mellitus, electrolyte imbalances, kidney failure, uremia, nutritional deficiencies and phenylketonuria (PKU)
Alcohol and drug use or withdrawal
Hormone changes experienced during pregnancy and menstruation ...

Phenylketonuria (PKU)
Sickle Cell Disease
Mandatory newborn screening programs: For some conditions, early diagnosis is so important that New Jersey requires testing in the hospital at birth.

women who have phenylketonuria but do not adhere to the special diet necessary
women who have insulin-dependent diabetes or lupus
women who contract rubella while pregnant ...

For example, phenylketonuria (PKU) is a rare disease but has very serious long-term consequences if left untreated.

Neurofibromatosis
Tuberous sclerosis
Fragile X syndrome
Phenylketonuria (PKU)
Möbius syndrome
Epilepsy
Herpes encephalitis
Cytomegalovirus
Problems during pregnancy or delivery
Contracting rubella during pregnancy (a risk for the child) ...

The genetic disease PKU (phenylketonuria) provides an illustration of ecogenetics. Persons with PKU lack an enzyme to process an amino acid (phenylalanine) and so require a special environment: a diet low in phenylalanine.

ri test noun a test used on babies to detect the presence of phenylketonuria After R Guthrie b 1916 US ...
gutta
t noun a drop of liquid as used in treatment of the eyes NOTE The plural is guttae ...

People with a rare genetic condition called PKU (phenylketonuria) should avoid aspartame. Some others may be sensitive to aspartame, but most people can use it without worry.

Guthrie test: A simple screening blood test for phenylketonuria (PKU). The Guthrie test was the original impetus to newborn metabolic screening.

In newborns, routine screening for conditions such as phenylketonuria happens as part of a baby's newborn check-up.

Examples include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few of the hundreds of known inborn errors of metabolism.

Several medical conditions are known to be associated with ADHD. These include fragile-X syndrome, fetal alcohol syndrome, G6PD deficiency, phenylketonuria and generalised resistance to thyroid hormone.

microcephaly if, during pregnancy, their mother abused drugs or alcohol, became infected with a cytomegalovirus, rubella (German measles), or varicella (chicken pox) virus, was exposed to certain toxic chemicals, or had untreated phenylketonuria ...

Brain damage caused by lack of oxygen, as can occur in near drowning or near suffocation
Brain trauma
Severe head injury
Spinal cord injury
Stroke
Adrenoleukodystrophy
Phenylketonuria
Neurodegenerative illness
Multiple sclerosis ...

Two recessive disorders that affect mostly whites are: cystic fibrosis, a lung and digestive disorder, and phenylketonuria (PKU), a metabolic disorder.

See also: Symptom, Pku, Pregnancy, Seizure, Cancer