Phenylketonuria

фенилкетонурия фото Phenylketonuria (Felling disease) is a serious hereditary disease caused by a violation of amino acid metabolism and manifested by progressive dementia, physical development lag, disorders of muscle tone and movements. This pathology occurs in 1 child per 10,000 newborns. On the basis of gender, the ratio is the same, but most boys with phenylketonuria die in the first year of life.

At the heart of phenylketonuria is insufficient synthesis of phenylalanine converting into tyrosine of the enzyme phenylalanine-4-hydroxylase. As a result of this deficiency in the body fluids / tissues there is a significant accumulation of phenylalanine and its derivatives (phenylethylamine, phenylacetylglutamine, and also phenyl-milk, phenylpyruvic and phenylacetic acids), which leads to toxic damage to the central nervous system, resulting in disorders in the metabolism of hormones, exchange; there are disorders in the transport of amino acids, disrupted the exchange of serotonin and catecholamines

Phenylketonuria - symptoms

In the initial period from the moment of birth, the child looks quite healthy. Most often, the initial symptoms of phenylketonuria are manifested in the age interval from two to six months, this: lack of interest in all surrounding, pronounced lethargy or in contrast increased irritability, vomiting, anxiety. . From the moment the child overcomes a six-month-old age, a lag in mental development becomes apparent: in 60% of children this is idiocy, in 10% of children - phenylpyrovine oligophrenia . The skull slightly decreases in size, the growth can be both normal and slightly reduced, there is a later teething, children learn to sit and walk late. The gait and posture of such kids are quite peculiar: they stand with their legs apart, bending them in the hip and knee joints, lowering the shoulders and head; walk swaying, small steps. Due to the increased muscle tone, these children sit with their legs tucked (the tailor's pose). Most of the kids are blue-eyed, blonde, skin integuments are almost completely devoid of pigment. In some patients, epileptic seizures may occur with age.

, гипопигментация, изменения кожных покровов, экзема, сухость, катаракта, светлые радужки, склеродермия, отчетливый «мышиный» запах тела, рвот The most characteristic manifestations of phenylketonuria are: mental retardation, mental and neurological disorders, increased excitability (in childhood), specific posture and posture in sitting, specific gait, stereotyped movements, unusual limb position, convulsions, increased tendon reflexes, defective myelin formation, covers, microcephaly , hypopigmentation, skin changes, eczema, dryness, cataracts, light iris, scleroderma, a distinct "mouse" body odor, vomiting in the neonatal period, hypopigmented hair

Diagnosis of phenylketonuria

It is very important to establish a diagnosis even in the preclinical stage, or at least no later than the second month of life of the baby, from the moment of possible appearance of the first signs of the disease. All newborns are subject to examination by special screening programs that are able to detect elevated concentrations of phenylalanine in the blood even in the first weeks of life. Each child with a minimal underlying neurological symptom or signs of delayed development should be examined for pathology of phenylalanine metabolism. Differential diagnosis is performed with intrauterine infections and intracranial birth trauma

Phenylketonuria - treatment

The only effective method of treating phenylketonuria is the specially developed dietary therapy, organized since the first days of life, the principle of which is to limit the phenylalanine contained in foodstuffs, for which food products such as bakery products, nuts, chocolate, cereals, legumes, eggs, cottage cheese, fish are excluded , meat, etc. The therapeutic diet of patients with phenylketonuria consists of specialized products of both foreign and domestic production. Children of the first year of life are shown products that are similar in composition to breast milk, such as "Lofenilak" and "Afenalak". For children slightly older developed such mixtures as "Tetrafen", "Maxum-XP", "Phenyl-Free." Suffering phenylketonuria in pregnant women and older children (after six years) shows the reception of a mixture of Maxum-XP. In addition to specialized therapeutic products, the patient's diet includes juices, fruits and vegetables.

Children under treatment should be under the vigilant control of a psychoneurologist and a district pediatrician. At the beginning of phenylketonuria, the control of phenylalanine is carried out weekly, with the normalization of the indicators go to 1 time per month during the first year of life, and once in two months in children older than a year.

Duly started dietary treatment most often avoids the development of characteristic clinical manifestations of classical phenylketonuria. Treatment is mandatory before puberty, and sometimes longer. Due to the fact that a woman suffering from phenylketonuria can not tolerate a healthy fetus, a special treatment, begun before conception and continuing until the very birth, is aimed at excluding the affected fetus from phenylalanine from a sick mother

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