Phenylketonuria - signs , symptoms and treatment


1. Signs

2. Symptoms of phenylketonuria

3. Diagnostics

4. treatment of phenylketonuria

Phenylketonuria - it is a serious hereditary disease, the nature of which is contained in the amino acid metabolism disorders.

Phenylketonuria dangerous because it totally affects the central nervous system as a result of the enzyme deficiency - phenylalanine, which is responsible for the formation of mental activity, and as a consequence there is an infringement of intellectual development of man.

Causes of this disease are caused by genetic factors, therefore inherited phenylketonuria.At the same time, the parents may be completely healthy and do not have problems with metabolism.

phenylalanine in the body enables the construction of protein and promotes the formation of thyroid hormone - thyroxine.And if it is not processed correctly, a person develops dementia.

save a child who was born with phenylketonuria is possible only if the earliest possible diagnosis and early treatmen

t.Early diagnosis of phenylketonuria can be carried out with the help of neonatal screening.


Although phenylketonuria is inherited, it can directly and not appear.But phenylalanine, which comes from the mother's milk in the body of a sick child, and then with the other food reaches a critical concentration and affects the brain child of the head, breaking thus its functioning.As a rule, in the absence of timely treatment of phenylketonuria first symptoms become noticeable in the first months of life.

Signs of phenylketonuria in children include:

  • muscle hypotonia, lethargy;
  • decrease in motor coordination;
  • spasms and involuntary movements of the limbs;
  • excessive regurgitation, vomiting.

Patients with phenylketonuria children have a similar phenotype.These kids are very pretty, have blond hair, blue eyes, delicate, almost translucent skin.But when the disease begins to progress, they lose this angelic good looks, as in the body there is a total violation.Build patients with phenylketonuria becomes disproportionate, appear on the skin of eczema, dermatitis, and the person begins to resemble idiopathic mask.

high percentage of risk to be ill with phenylketonuria in children whose both parents are carriers of the gene.In such a situation, inherited phenylketonuria with a probability of 25%.And in the case when the patient is transferred to the fetus gene from only one parent, it becomes 50% of its own vehicle, without external manifestations of disease.

disease may be caused by such factors as the closely related marriages, localization of gene mutation in chromosome 12, gene inheritance PKU.

Symptoms of phenylketonuria

Characteristically, the disease does not manifest itself in fetal development.A child is born in time, it has a normal weight, and the first 2 - 2.5 months after birth, does not differ from healthy peers.

first and alarming symptom is frequent vomiting phenylketonuria.

Sick child not gaining weight, can not hold a head, has no interest in the outside world, and becomes drowsy and irritable.Such manifestations, parents may notice the ages of 2 to 6 months.

phenylketonuria most characteristic symptom is excessive sweating of the child, which has a very peculiar smell of a mouse.Also, experts note a clear reduction in the skull, as well as seizures.

Additional features phenylketonuria in children include delayed eruption of teeth, delay in motor activity and wanton aggression.

If at this stage does not begin treatment, the symptoms begin to appear phenylketonuria all faster and will be expressed in the body imbalances, a constant tremor of limbs, specific poses.After 6 months, these children are very far behind in mental development of their peers.

In addition to these symptoms can indicate more blueness of the extremities, sweating, dermographism (change in color when exposed to a local).Often in patients with phenylketonuria are marked, in addition to the symptoms mentioned above, the presence of dermatitis, hypotension, tremor of limbs, frequent constipation, poor coordination of movements.


Since phenylketonuria inherited quite often, despite the fact that both parents are healthy, early diagnosis of the disease is extremely important.She avoids his progression, the development of severe and irreversible effects.

Therefore in hospitals for 4-5 day of life a full-term baby, it takes the blood to be analyzed.A preterm infants - 7 days.This procedure is called a blood screening test for phenylketonuria.

This procedure is simple, and involves taking capillary blood after an hour after feeding.This blood is impregnated with a special form, and if the concentration exceeds 2.2% of phenylalanine in the blood of the child, he was sent to inspect in Medical Genetics Center.

treatment of phenylketonuria

only treatment for phenylketonuria is the timely adjustment of diet, which is necessary since the early days.Its essence is to limit phenylalanine, which is found in some foods.Therefore, all protein products must be strictly excluded.Given the biological processes in the body of the sick person phenylketonuria, complete elimination of phenylalanine from the diet may lead to depletion of the body.Therefore, a patient should necessarily receive certain amino acid mixtures, and protein hydrolysates and diet for at least 5 years.

When decreases the concentration of phenylalanine in the diet gradually introduce products of animal origin in the blood of the patient with phenylketonuria.You can also add a variety of fruits and seasonal vegetables, animal and vegetable fats, and carbohydrates.In phenylketonuria treatment involves constant monitoring of the content of phenylalanine in the blood.Body baby need to be equipped with this amino acid to the extent necessary for its normal development and growth.

Subject to the recommendations of doctors, as a rule, the child can go to a conventional power supply system.

It should be noted that the treatment of phenylketonuria medicines aimed at the elimination of symptoms.

For example, in phenylketonuria prescribed drugs targeting elimination of seizures, as well as those that stimulate intellectual activity.An essential purpose of the course is to massage and physical therapy.They may also offer lessons on the development of logic.

Since phenylketonuria inherited, then the disease is within the genetics doctor.Therefore, its diagnosis is carried geneticist and pediatrician on the basis of the necessary studies in combination with common symptoms.A in the treatment of phenylketonuria plays a fundamental role the observance of the right to food.

According to statistics, phenylketonuria sick child of 10 thousand newborns.In order to prevent the birth of a sick child for phenylketonuria, prospective parents should undergo genetic screening.As a rule, risk staying those families who have had relatives who suffer from this disease.


This article is available exclusively in the educational purposes and is not research material or professional medical advice.

make an appointment to see a doctor

Latest Blog Post

Forms and methods of treatment of osteomyelitis in children and adults
August 12, 2017

Contents: 1. causes of the disease and its types 2. clinical picture of osteomyelitis 3. Osteomyelitis in Children 4. Treatme...

Bone osteoma - Causes, Symptoms , Treatments
August 12, 2017

Contents: 1. Osteoma bone 2. Osteoma frontal bone 3. disease treatment Osteoma - a benign bone disease that comes from bone ...

Causes and symptoms of osteoarthritis of joints , treatment
August 12, 2017

Contents: 1. Causes and symptoms 2. Osteoarthritis of the knee 3. Deforming osteoarthritis 4. treatment of disease 5. Peo...