|
 DEFINITION
The fenilcetonuria is a rare hereditary illness, in which a fenilalanina hidroxilasa absence exists and by it the amino acid is not metabolized appropriately fenilalanina. This absence of metabolism of the fenilalanina produces his excessive accumulation and in the affected children a severe mental deficiency.
The heredity is autosómica recessive, therefore both parents must transmit to the child the defective gene so that it turns out to be affected.
SYMPTOMS OF FENILCETONURIA
- Cutaneous eczema
- Microcephaly
- Quakes and spasmodic movements of arms and legs
- Abnormal position of the hands
- Convulsions
- Hyperactivity
- Mental deficiency
- Smell of typical mouse in the urine and the perspiration
- Typical aspect with pale skin, fair-haired hair and blue eyes
PREVENTION AND DIAGNOSIS
As prevention can do a study to itself by means of the amniocentesis and a test of the fluffinesses coriónicas to detect fenilcetonuria fetal.
In the newborn baby an analysis is realized in the context of early detection of illnesses of the metabolism, by means of the blood capture of the heel.
TREATMENT
The treatment consists principally of a very low diet in fenilalanina, which will be indicated by the pediatrician and dietitian and debit of being continued definitely by the parents.
The fenilalanina is in certain food:
- Milk
- Eggs
- In the sweetener aspartamo
- Others to indication of the dietitian.
There are alternative milk without fenilalanina for his use in these cases.
If the diet is strict and well taken from the birth the problems are minor, but if it is begun after 3 years or is not done, the cerebral damage is inevitable.
WHAT DOCTOR CAN TREAT ME?
|
DEFINITION 
