Genetic diseases



phenylketonuria photo Phenylketonuria (Felling disease) - a serious hereditary disease caused by metabolic disorders of amino acids and is manifested by progressive dementia, delay of physical development, disorders of muscle tone and movement. This pathology occurs in 1 in 10,000 newborn child.At the same gender ratio, but most of the boys with phenylketonuria still die in the first year of life.

The basis of phenylketonuria is insufficient synthesis converts phenylalanine to tyrosine enzyme phenylalanine-4-hydroxylase.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 transport of amino acids, violated exchange of serotonin and catecholamines

Phenylketonuria - symptoms

In the initial period after the birth of the child seems to be quite healthy.The most common initial symptoms of phenylketonuria appear in the age range of two to six months, this lack of interest to all the surrounding expressed lethargy or against irritability, vomiting, restlessness.Since the age of six months to overcome a child becomes a pronounced lag in mental development: 60% of children is an idiot in 10% of children - phenylpyruvic oligophrenia .The skull is slightly reduced in size, growth can be either normal or slightly reduced, observed later teething children late to learn to sit up and walk.Gait and posture in these kids quite peculiar: they stand legs apart, bending at the hips and knees, lowered his head and shoulders;walk unsteadily in small steps.Due to the increased muscle tone, sitting cross-legged children are (posture tailor).Most often, kids are blue-eyed, fair-haired, the skin is almost totally devoid of pigment.Some patients may experience passing with age seizures.

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

Diagnostics phenylketonuria

Itit is important to establish the diagnosis is still in 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 inspection by a special screening programs that are able to detect an increased concentration of phenylalanine in the blood, even in the first weeks of life.Every child with a minimum detected neurological symptoms or signs of developmental delay should be examined for the presence of phenylalanine metabolism pathology.Differential diagnosis is carried out with intrauterine infection and intracranial birth trauma

Phenylketonuria - treatment

only effective treatment for phenylketonuria is considered to be organized since the first days of life specially formulated diet therapy, the principle of which is to limit in food phenylalanine, which excluded such productsPower as baked goods, nuts, chocolate, cereals, legumes, eggs, cheese, fish, meat and so on. The therapeutic diet patients with phenylketonuria consists of specialized products, both foreign and domestic production.Babies first year of life show the products in its composition close to breast milk, it is a mixture of such as "Lofenilak" and "Afenilak."For children a little older, such mixtures are designed as "Tetrafen", "Maksamum-XP", "Phenyl-Free."PKU pregnant women and older children (after six years) is shown receiving a mixture of "Maksamum-XP."In addition to specialized medical products in the diet of the patient include juices, fruits and vegetables.

in treatment children must be under the constant supervision of a pediatrician and neuropsychiatrist.At the beginning of treatment phenylketonuria phenylalanine content control is carried out on a weekly basis, with the normalization of the conversion rates of 1 once a month during the first year of life, and one every two months in children older than one year.

timely begun diet therapy often avoids the development of characteristic clinical manifestations of classical phenylketonuria.Treatment shall be required before puberty, and sometimes longer.Because patients with phenylketonuria woman make a healthy fetus is not capable, held begun even before conception and continuing up to the birth a special treatment to the exclusion of fetal phenylalanine from the sick mother

More articles on the topic:

1. Tay-Sachs disease Marfan syndrome 4.

2. 5. Klinefelter Syndrome Patau Syndrome

3. Syndrome Edwards Syndrome 6. Lejeune

service physician recruitment is relevant only for the citizens of the Russian Federation