Phenylketonuria

phenylketonuria( Felling's disease) - a serious hereditary disease caused by metabolic disorders of amino acids and is manifested by progressive dementia, delay of physical development, muscle tone disorders 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.

Phenylketonuria is based on an inadequate synthesis of the phenylalanine-converting enzyme phenylalanine-4-hydroxylase into tyrosine. As a result of this deficiency in the fluids / tissues of the body there is a significant accumulation of phenylalanine and its derivatives( feniletillamin, fenilatsetilglyutamin and phenyllactic, phenylpyruvic and phenylacetic acid) which leads to the toxic lesions of the central nervous system, whereby there are disturbances in the metabolism of the hormones, the proteinExchange;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 on the contrary 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 these babies are rather peculiar: they stand with their feet 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 posture).Most of the kids are blue-eyed, blonde, skin, almost completely devoid of pigment. In some patients, epileptic seizures may occur with age.

most characteristic manifestations of phenylketonuria: mental retardation, mental and neurological disorders, anxiety( as a child), a specific posture and posture when sitting, peculiar gait, stereotyped movements, unusual position of the limbs, convulsions, increased tendon reflexes, defective formation of myelin changesskin, microcephaly , hypopigmentation, skin changes, eczema, dryness, cataracts, light iris, scleroderma, a distinct "mouseth 'body odor, vomiting in the newborn period, hypopigmented hair

Diagnostics

phenylketonuria is very important to establish a diagnosis as early as the pre-clinical stage, or at least no later than the second month of the baby's life, since the 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 includes intrauterine infections and intracranial birth trauma

Phenylketonuria - treatment

only effective treatment for PKU is considered to be organized since the first days of life specially designed diet therapy, the principle of which is to limit contained in phenylalanine foods, which excluded such foods as breadProducts, nuts, chocolate, cereals, legumes, eggs, cottage cheese, fish, meat, etc. Therapeutic diet of patients with phenylIt 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 a little 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 supervision 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.

Timely onset diet therapy often avoids the development of characteristic clinical manifestations of classical phenylketonuria. Treatment is mandatory before puberty, and sometimes even longer. Due to the fact that a woman suffering from phenylketonuria can not tolerate a healthy fetus, the special treatment begun before conception and continuing until the very birth is aimed at excluding fetal damage by phenylalanine from a sick mother

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