EasyNetWorld

Do you understand this dangerous metabolic genetic disease, phenylketonuria?

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.

How may metabolic problems be treated?

a way of life and DIY remedies
exercise on a regular basis. Health professionals advise taking at least 30 minutes of exercise each day, such as brisk walking. reduction in body weight. ... A healthy diet Putting an end to smoking. lowering or controlling stress.

What condition has a chronic metabolic disorder?

One of the biggest risks to world health in the twenty-first century is the rise in chronic metabolic disorders like obesity, diabetes, and liver and cardiovascular diseases.

What kind of medical professional specialized in metabolic diseases?

Internal medicine's specialization of endocrinology specializes in the identification and treatment of illnesses affecting the endocrine system, hormones, and metabolism.