Sat, 07 May 2016
Фенилкетонурия (ФКУ) — это заболевание, которое
directly associated with impaired amino acid metabolism and leads to
defeat of the central nervous system. Phenylketonuria predominantly occurs in
girls. Often, sick children are born from healthy parents (they
are heterozygous carriers of the mutant gene). Related
same marriages only increase the number of children born with such
the diagnosis. Phenylketonuria is most commonly observed in the northern
Europe – 1: 10,000, in Russia with a frequency of 1: 8-10000 and in Ireland –
1: 4560. In blacks, PKU almost never occurs.
Contents
Phenylketonuria – causes
At the heart of phenylketonuria is an enzyme deficiency called
phenylalanine-4-hydroxylase, providing the synthesis of phenylalanine in
tyrosine. a large accumulation in fluids and tissues follows
phenylalanine and its derivatives (phenylacetic,
phenyl milk and phenyl pyruvic acids, as well as
phenylethylamine, phenylacetylglutamine, etc.), providing
toxic effects on the central nervous system and causing disturbances in the metabolism of glyco-
and lipoproteins, protein metabolism and hormone metabolism; cause
metabolic serotonin and catecholamines, disorders
amino acid transport, perinatal factors.
Phenylketonuria – symptoms
The newborn looks completely healthy, the first symptoms
diseases begin to appear when a child reaches 2-6
months. Phenylketonuria is manifested by severe weakness,
lack of interest in the environment; there may be anxiety
vomiting and irritability. Already after reaching the child
six months old, you can notice some of his lag in
mental development.
Baby growth can be normal or reduced. Also observed
decrease in the size of the skull, later teething, baby later
starts to sit and walk. These children have a peculiar pose.
and gait: they walk swaying, in small steps, dropping their shoulders and
head, legs spread wide, which are bent at the hip and
knee joints.
Also, patients sit in the “tailor position”, that is, tucking
legs, which is associated with increased muscle tone. In most cases
Phenylketonuria affects blond, blue-eyed children;
which the skin is completely devoid of pigmentation. In some of these patients
epileptic seizures occur, a “mouse” smell is characteristic, but with
by age they disappear. Cyanosis and dermophragism are expressed.
limbs, sweating, increased sensitivity to injury and
sun rays. Most often, phenylketonuria in children is manifested
dermatitis, severe eczema, hypotension and tendency
to constipation.
Phenylketonuria – diagnosis
For the prevention of the irreversible effects of PKU, it is carried out
diagnosis immediately after birth. In the maternity hospital on the 4-5th day of life
full-term baby and on the 7th – blood is taken from the premature
examination. A drop of capillary blood is impregnated with a special
paper form. If the concentration of phenylalanine is in the blood
more than 2.2 mg%, then the baby with parents is sent to
Medical Genetic Center for examination, further examination and clarification
diagnosis.
Фенилкетонурия — treatment и профилактика
Phenylketonuria is currently treated by the only method.
– timely organized diet therapy, which is based on
the principle of limiting the phenylalanine in food. Wherein
foods that contain high levels of food are completely excluded from the diet.
the amount of protein (cottage cheese, fish, meat, chocolate, cereals, legumes,
egg, bakery products, nuts, etc.). In clinical nutrition
For patients with PKU, specialized products of foreign medicine are used.
and domestic production.
For the nutrition of children under one year, the products are close in composition to
breast milk – a mixture of “Lofenilak”, “Afenilak” and others. For
older children are recommended to use mixes “Maxamum-HR”,
�”Tetrafen”, “Phenyl-free.” For больных фенилкетонурией источником
fat is butter, ghee and vegetable oil. Also
include in the diet juices, sugars, fruits and vegetables. Sick children
constantly under the supervision of a neuropsychiatrist and district
pediatrician. Also регулярно контролируют содержание фенилаланина в
serum according to a special schedule.
