An inborn error in metabolism that prevents the body from using phenylalanine, an amino acid necessary for normal growth and development.
Autosomal recessively inherited inborn error of metabolism of phenylalanine.
All babies born in the U.S. are tested at birth for PKU, a genetic disorder of a liver enzyme that disrupts normal body functions. If not carefully regulated by diet early in infancy, PKU can cause mental retardation.
A condition in which one lacks the gene that enables one to metabolize phenylalanine. If detected early enough, this condition can be treated by means of a special diet. If not detected early, this disorder can cause a severe form of retardation. See also phenylalanine.
An inherited, metabolic disorder that can result in mental retardation and other neurological problems. People with this disease have difficulty breaking down and using the amino acid phenylalanine. PKU can be managed by a diet restricted in foods that contain this amino acid.
(phen·yl·ke·to·nu·ri·a) NOUN: A genetic condition in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the condition can cause brain damage and a progressive cognitive disability as a result of the accumulation of phenylalanine and its breakdown products. Also known as PKU.
An inherited disorder caused by a lack of an enzyme necessary to convert the amino acid phenylalanine into another amino acid, tyrosine, so that excesses can be eliminated from the body. A build up of excess phenylalanine in the blood can lead to neurological disturbances and mental retardation.
a genetic disorder of phenylalanine metabolism, which, if untreated, causes severe mental retardation in infants through the accumulation of toxic metabolic products.
An inborn error of metabolism that is caused by lack of the enzyme PAH that converts phenylalanine to tyrosine. If left untreated, it causes abnormally high phenylalanine levels and severe, progressive mental retardation, but can be prevented by neonatal screening and a low phenylalanine diet from an early age.
a disorder characterized by elevated levels of the amino acid phenylalanine in the blood
A condition present at birth in which the body lacks a specific enzyme; this causes abnormal metabolism and if not treated may result in brain damage
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
a hereditary disease caused by the inability to properly metabolize phenylalanine (an amino acid), resulting in mental deficiency and poor physical development.
A genetic disorder in which the body cannot break down the amino acid phenylalanine; abbreviated PKU.
A hereditary disorder that results in reduced production of the liver enzyme phenylalanine hydroxylase. This substance is involved in the breakdown of phenylalanine in food to tyrosine. Without a modified diet, affected infants will develop severe, irreversible brain damage.
An Inborn Error of Metabolism. The most severe manifestation of hyperphenylalaninemia due to deficiency of the enzyme phenylalanine 4-monooxygenase deficiency, with accumulation and excretion of phenylalanine, pheylpyruvic acid, and related compounds and inherited as an autosomal recessive trait. It is characterized by severe mental retardation, tumours, seizures, hypopigmentation of hair and skin, eczema and mousy odor, all preventable by early restriction of dietary phenylalanine.
A metabolic disability in processing one of the essential amino acids (phenylalanine), which leads to toxicity, mental retardation, and physical disabilities; PKU can be controlled by diet.
a condition that is tested for in newborn babies. It affects how protein is broken down in the body. If untreated this leads to poor brain development. If it is identified early then the child is put on a special diet and the brain can develop normally. PKU has been screened for throughout the UK since 1969.
A disease in which the enzyme that metabolizes the amino acid phenylalanine is not expressed, resulting in abnormally high levels of phenylalanine. If left untreated, PKU can lead to severe, progressive mental retardation.
An inherited metabolic defect in protein metabolism. In PKU, the liver is unable to convert phenylalanine to tyrosine, resulting in a buildup of phenylalanine in the blood, which eventually passes into the brain, causing mental retardation and other neurological problems.
autosomal recessive inborn error causing a deficiency of phenylalanine hydroxylase, preventing the conversion of phenylalanine to tyrosine. Mental retardation can be prevented by placing children on a phenylalanine-deficient diet.
An inherited metabolic disorder in which there is a deficiency or the absence of the enzyme phenylalanine hydroxylase. This enzyme deficiency leads to high levels of the amino acid phenylalanine and low levels of tyrosine, causing mental retardation and other health problems. Dietary restriction of phenylalanine can reduce or eliminate these problems.
An inherited biochemical abnormality that results in faulty breakdown of key substances in the blood. Consequently there are phenylketones in the urine (hence the name “phenylketonuria”), and an accumulation of noxious substances which may damage the brain. A special diet can prevent problems.
(PKU) a disease resulting from an inability to break down phenylalanine, an amino acid. Causes mental and motor retardation, microcephaly, poor growth rate and seizures. Can be tested in newborn screening. (More? Neonatal Screening)
an inherited (autosomal recessive) metabolic disorder, marked by the deficiency of the enzyme that converts phenylalanine (an amino acid) to tyrosine; accumulation of phenylalanine in the blood can lead to mental retardation and other neurologic problems; treatment includes a low-phenylalanine diet and a phenylalanine-free medical food
A genetic disorder in which a liver enzyme is defective, possibly leading to serious brain damage. The condition is determined through a blood test done at birth. It may be controlled by a special diet.
a hereditary disorder of amino acid metabolism in humans, inherited as an autosomal recessive
an inborn error of metabolism caused by the lack of an enzyme, resulting in abnormally high levels of the amino acid phenylalanine; untreated, PKU can lead to severe, progressive mental retardation.
inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase and characterized by mental retardation.
an inherited disease in which the body cannot metabolize a protein called phenylalanine.
a hereditary enzyme deficiency that, if left untreated in the infant, causes mental retardation. (355)
Inherited disease caused by lack of an enzyme necessary for converting phenylalanine into a form the body can use. Accummulation of too much phenylalanine can cause poor mental and physical development in a newborn. Most states require a test at birth to detect the disease. When detected early and treated, phenylketonuria symptoms can be prevented by dietary control.
Children with autism, Trevarthen et al Genetic disorder that results from lack of a single gene that normally codes for the enzyme required for the body to process phenylalamine, an amino-acid present in most foodstuffs. Affected individuals, unless given a special diet with low levels of phenylalamine, present with developmental delay and often with autism.
A human metabolic disease caused by a mutation in a gene encoding a phenylalanine-processing enzyme, which leads to mental retardation if not treated; inherited as an autosomal recessive phenotype.
PKU is a genetic abnormality in which the body lacks an enzyme needed for normal metabolism. If not carefully regulated by diet early in infancy, PKU can cause mental retardation.
n 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. Newborns are screened for PKU, in order to determine the need for treatment before brain damage occurs.
an inherited disease in which the body cannot metabolize the amino acids phenylalanine. If the disease is untreated, toxic byproducts accumulate in the blood and cause mental retardation.
an inherited recessive disorder which is a disease tested for by newborn screening and often treatable by diet.
a metabolic disorder due to the lack of an enzyme to break down the amino acid phenylalanine. The result is a build-up of phenylalanine in the blood and in the urine. This condition occurs when a child inherits one defective gene from each parent. If not treated quickly and properly, PKU can cause severe mental retardation, seizures, and eczema. The treatment is total avoidance of phenylalanine in the diet, beginning at birth. All states screen newborns for PKU with a simple blood test.
Related Topic"An inherited disease caused by a lack of an enzyme necessary for converting phenylalanine into a form the body can use..."
An enzyme deficiency present at birth that disrupts metabolism and causes brain damage. This rare inherited defect may be linked to the development of autism.
Recessive genetic disorder in which phenylalanine, an amino acid, fails to be metabolized. Unless dietary changes are made to reduce intake of phenylalanine, severe mental retardation occurs.
A rare inherited disorder. Causes an inability to metabolize phenylalanine, an amino acid that's a common part of many proteins that form tissues in the body. Left untreated, it causes severe mental retardation in infants.
An inherited congenital disorder that can lead to mental retardation.
Phenylketonuria (PKU; ) is a human genetic disorder in which the body does not contain the enzyme phenylalanine hydroxylase, necessary to metabolize phenylalanine to tyrosine, and converts phenylalanine instead to phenylpyruvic acid. Left untreated, the resulting accumulation of phenylpyruvic acid can cause brain damage and progressive mental retardation. The incidence of occurrence of PKU is about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the population of Ireland to fewer than one in 100,000 births among the population of Finland.