What is PKU in biochemistry?

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine.

What is the biochemical consequence of PKU?

The two major consequences are: (1) toxic levels of phenylalanine in the body and (2) high ratio of phenylalanine to tyrosine associated with impairment of the production of neurotransmitters. High levels of phenylalanine, as seen in untreated PKU, cause brain damage and associated mental retardation.

Is PKU a metabolic disorder?

Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine. Phenylalanine is in many common foods. But it can build up in the bloodstream of children with PKU.

What is PKU short for?

Phenylketonuria (also called PKU) is a condition in which your body can’t break down an amino acid called phenylalanine. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood and causes health problems.

What is Alkaptonuria biochemistry?

Alkaptonuria, or black urine disease, is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.

What is the pathology of phenylketonuria?

Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism caused by the deficiency of phenylalanine hydroxylase. This deficiency leads to the accumulation of Phe and its metabolites in tissues and body fluids of PKU patients.

What is the pathophysiology of PKU?

Pathophysiology of PKU When one of several gene mutations results in deficiency or absence of phenylalanine hydroxylase, dietary phenylalanine accumulates; the brain is the main organ affected, possibly due to disturbance of myelination.

What does PKU cause?

PKU is caused by the buildup of phenylalanine in the body. Your body uses this amino acid to make other proteins. If you have PKU, your body can’t break down phenylalanine. If it is not treated, this buildup damages the brain and causes PKU symptoms.

Is PKU an autoimmune disease?

Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented.

What is PKU in psychology?

APA Dictionary of Psychology n. an inherited metabolic disease transmitted as an autosomal recessive trait and marked by a deficiency of an enzyme (phenylalanine hydroxylase) needed to utilize the amino acid phenylalanine.

Is alkaptonuria and phenylketonuria same?

Alkaptonuria is a recessive genetic deficiency resulting in the incomplete oxidation of tyrosine and phenylalanine, causing increased levels of homogentisic (or melanic) acid. It is also known as phenylketonuria and ochronosis.