What are the diagnostic criteria for phenylketonuria in children?

World Health:Phenylketonuria is an inherited metabolic disorder mainly caused by a deficiency of the enzyme phenylalanine hydrogenase in the liver. Generally speaking, if ch...

Mar 30,2022 | Frances

Whatarethediagnosticcriteriaforphenylketonuriainchildren?

Phenylketonuria is an inherited metabolic disorder mainly caused by a deficiency of the enzyme phenylalanine hydrogenase in the liver. Generally speaking, if children suffer from this disease, they will be mentally retarded, their skin will turn white, their hair will turn yellow, their limbs will be shortened, and the patient will have a musty smell, so they should be treated in time after suffering from this disease.

Phenylketonuria is a disease of amino acid metabolism, most children can be diagnosed after birth, mainly because of the lack of corresponding enzymes in amino acid metabolism of phenylketonuria, but many parents do not know how to diagnose phenylketonuria, which is also the reason for many parents More concerned, what are the diagnostic criteria for phenylketonuria in children?

1. Generally speaking, after the child is born, the hospital will collect the peripheral blood of the heel for testing, mainly through the Guthrie bacterial growth inhibition test. If the test result is positive, it means that the concentration of phenylamino acids in the body is high, and phenylketonuria may be present;

2. Older children can do urine ferric chloride test, mainly urine test. Normally, ferric chloride is instilled in children's urine. If the urine turns green, the test result is positive and the concentration of phenylalanine in the child's urine is high;

3. Can detect phenylalanine amino acid in blood. The normal blood phenylalanine amino acid range is 60-180mol/L. If a child has phenylketonuria, the value will be well above the normal range, even more than 10 times the normal value. At present, this detection method is widely used what is pku;

4. Determine whether the child's family has phenylketonuria. If there is a patient with this disease in the family, then the child may also have this disease;

This disease is preventable, and consanguineous marriage is generally prohibited. This disease is mainly because the child's parents suffer from chromosomal diseases. If the child suffers from phenylketonuria, go to the hospital for treatment in time. Generally, genetic diseases are difficult to treat, but Children can be relieved through professional treatment, which can effectively improve children's treatment and improve children's living standards. Usually, they also have good living habits and go to the hospital for regular check-ups.

More Articles

novice mother most often encountere
novice mother most often encountere

Novice mothers are always nervous when they encounter problems.For fear of what will happen to the baby, in the end it is st...

mother

For a high success rate of website transactions, you need a good payment gateway
For a high success rate of website transactions, you need a good payment gateway

Payment gateways are technologies that enable an ecosystem of transaction processing to continue to operate in your organiza...

When a delivery man cried on the side of the road for breaking a cake
When a delivery man cried on the side of the road for breaking a cake

What happened,brother.The cake got smashed.Hi, I m TreeMan s friend, Joke.What will people do when they see a food delivery ...

cake

The dreaded genetic metabolic diseases you didn't know about!
The dreaded genetic metabolic diseases you didn't know about!

Genetic metabolic diseases are caused by genetic defects in the biosynthesis of certain enzymes, inherited metabolic disorde...

The hard drive is broken.[Green glasses]
The hard drive is broken.[Green glasses]

Hello everyone I m green glasses, I m very sorry.Then there is no sound effect for this video.Any subtitle, any card Nothing...

glass it app

3M™ Tabletop Filter System Water Dispenser HCD-2, black
3M™ Tabletop Filter System Water Dispenser HCD-2, black

The built-in high-efficiency water filtration system has won the international certification of NSF/ANSI 42 and 53, which ca...

desktop water dispenser water dispenser desktop drinking water

【Food recommendation】 Changsha travel must eat food
【Food recommendation】 Changsha travel must eat food

The city of Changsha has almost become a first-tier city now. This city has a very unique aspect in every aspect, especially...

Food recommendation Changsha Food Changsha snacks

Joel sierra nico: big data surprising seeds
Joel sierra nico: big data surprising seeds

There s an old joke about a copwho s walking his beatin the middle of the night,and he comes across a guyunder a street lamp...

big data