Phenylketonuria, a inherited metabolic disorders that increases phenylalanine levels in patients

Phenylketonuria (PKU) is a genetic metabolic disorder that increases phenylalanine levels in the body. Phenylalanine is one of the most important components of the amino acid protein.

People with PKU are unable to properly break down excess phenylalanine and convert it to tyrosine. This means that phenylalanine accumulates in the person's blood, urine and body.

If Phenylketonuria is not treated, phenylalanine can accumulate to harmful levels in the body.

Untreated children develop intellectual disabilities. Light-colored skin and hair, seizures, developmental delays, behavioral problems and mental disorders are also common.

Mothers with PKU and who no longer follow a phenylalanine-restricted diet are at increased risk of having a mentally retarded child because their child may have been exposed to very high levels of phenylalanine before birth.

In most cases, PKU is caused by a change in the PAH gene (pathogenic variant, also known as a mutation). The disease is inherited through autosomal recessive genetic transmission.

Since PKU can be detected and treated with a simple blood test, PKU is part of the newborn screening process. In general, treatment of PKU requires a limited phenylalanine diet and strict monitoring.

The combination of pteridine and a low-phenylalanine diet can help some children and adults with PKU. The drug polyethylene glycol glutaraldehyde will help treat adults with high phenylalanine levels for this disease.

• by Jacqueline
• Mar 31,2022
• Topics
• 52

FEATURED HEALTH TOPICS

Control the metabolic disorders caused by obesity, can not stay up late, the danger is great

metabolic disorder caused by obesity have a significant impact on chronic metabolic diseases.The methods and means to treat or alleviate obese patients and thei...

3 answers to questions about newborn screening to give moms more peace of mind

What is neonatal screening?Neonatal disease screening refers to the screening of some serious congenital metabolic and heel prick test endocrine diseases by blo...

Timely detection of the disease can lead to faster treatment by following these 5 steps

(A) Anticipatory examinationAfter asking for medical history, doctors will make preliminary assessment on mental, amino acid disorder intellectual, psychologica...

Do you understand this dangerous metabolic genetic disease, phenylketonuria?

Phenylketonuria, a inherited metabolic disorders that increases phenylalanine levels in patientsPhenylketonuria (PKU) is a genetic metabolic disorder that incre...

What are the main symptoms of hyperphenylalaninemia and phenylketonuria?

The symptoms of hyperphenylalaninemia are determined by two different enzymes: phenylalanine hydroxylase and alanine hydroxylase. Newborns who are deficient in ...

Metabolic syndrome: 3 facts about it, are you really familiar with it?

The metabolism of a healthy person is stable, and the metabolic waste that occurs when the body s organs are fully functioning together can be successfully meta...

PKU child feeding advice.3 precautions to take to avoid losses

Younger infants: low-phenylalanine milk as a base, which pku guidelines can be added to breast milk or supplementation as appropriateBreastfeeding should be sto...

What are the early symptoms of mental retardation in children?

The best time to treat mental retardation is usually in infancy. If it can be found at this time, the treatment is very promising, and it can be improved step b...

Phenylketonuria is carefully misdiagnosed, and any abnormalities must be treated immediately.

Phenylketonuria can be screened for during pregnancy pku treatment and is included in the list of prenatal tests that girls must undergo during pregnancy.Phenyl...

What is metabolic syndrome? Teach you 6 ways to treat metabolic syndrome

Back to Article Page 6 Natural Remedies to Reverse Metabolic Syndrome You Should Know!1. Foods to AvoidThe first step is to avoid foods that metabolic clinic ca...