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Phenylketonuria is a genetic defect in which a baby is missing phenylalanine hydroxylase, and so prevents the breakdown of certain amino acids found in many proteins.
The treatment is a controlled diet that restricts the intake of phenylalanine which would would otherwise build up to damaging levels.
Improved answer: according to "Lachel Story, PhD, RN", Pathophysiology, A practical Approach source2012. pg. 26.Treatment for PKU involves a diet low in phenylalanine. Newborns may be breastfed, but the quantity has to be monitored. Special infant formulas are available for supplementation. Dietary restrictions include avoiding proteins and minimizing starches. Oral medications are available to lower phenylalanine (e.g., sapropterin {Kuvan}, and gene thereapy has also demonstrated promise in treating PKU.
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What does PKU stand for?
Phenylketonuria (PKU) is not an eating disorder. It is an inherited disorder which the body cannot break down phenylalanine, which is a part of protein. If PKU is not treated soon after birth, it can cause brain and nervous system damage.
Are there different forms of PKU or phenylketonuria?
No.
Is todd homozygous or heterozygous for pku?
no neither
What is the average life expectancy of someone with PKU?
42 years for males and 48 years in females is the life expectancy with people with PKU
How many people have pku?
I have PKU, and I find this question irresponsible. Instead of asking the question, "Do people die of PKU?" you apparently assume it is a fact that people can and do die of this disease without providing any evidence whatsoever. When parents first discover that their child has PKU many of them go to the web to get more information. It is bad enough that the first thing many of them read is "can lead to severe mental retardation" without realizing there are successful treatment options. But this question is even more irresponsible. I would highly recommend you revise it or clarify it, because it is dangerous and destructive.
What are palliative treatments for alcaptonuria?
Decrease homogenitisic acid formation by decreased phenylalanine and tyrosine. Essentially a PKU diet with decreased protein intake?
What is the survival rate for PKU?
100%
When was the first case of pku reported?
First case of PKU was reported in Munster Germany in 1964.
How does PKU impact protein synthesis?
PKU is a somatic genetic defect in an enzyme that metabolizes phenylalanine.
What color tube would you use for a PKU?
A PKU is a serum test, so it goes in a red top.
How does studying genetic disorders such as pku help biologist understand normal alleles?
PKU is a genetic disorder that, when untreated, is characterized by mental ... but, in a person with PKU, this enzyme is defective.
What is the abbreviation for phenylketonuria?
PKU
What is Phenylketonuria PKU?
phenylketonuria
How would a child inherit PKU?
PKU is a genetic disease, caused by an inability to metabolize the amino acid phenylalanine.
What are the disadvantages and advantages of PKU in newborn babies?
list 3 advantages n disadvantages on pku testing on newborns
Infants with PKU cannot break down the amino acid?
babies with PKU cannot break down phenylalanine
What happens if you have a unbalanced diet to PKU?
You can induce serious symptoms of PKU, esp behaviour and other mental problems.
