Phenylketonuria
Disease information
Phenylketonuria
Phenylketonuria
.
It is
a
hereditary
metabolic
disorder
that causes mental retardation.
It affects one in every 15, 000
children
mainly from northern European descent.
Diagnosis and Treatment.
Diagnosis.
We analyze the blood of newborn taking
a
few drops of your foot.
Treatment.
The treatment is to prevent the intake of phenylalanine (see Diet)
There are special milk
formula
free of phenylalanine.
After the full brain
development
the accumulation of phenylalanine is not as damaging.
Diet.
Foods rich in phenylalanine, and should be avoided, are the animal
protein
:
milk.
cow milk.
dairy products.
meat, fish and eggs.
Foods poor in phenylalanine, which may be freely, are the proteins of plant
origin
:
plant.
Fruit.
Cereals.
Pulses.
Complications.
The characteristic of the
disease
.
Forecast.
Well if there is strict control of the intake of phenylalanine.
Causes.
It affects how the body processes food:
children
affections can not process
a
component of proteins (amino acid) called for lack of the enzyme phenylalanine concerned.
As
a
result phenylalanine accumulates in the blood and causes brain damage and mental retardation.
Inherits
a
recessive:
Both parents must have the defective gene,
The probability that it will be passed to their
children
is 75%,
the likelihood of them suffer from the
disease
(to inherit two defective genes) is 25%.
and they are carrying (carry one defective copy, which may happen to their offspring, and other
normal
) of 50%.
The probability that the child is completely
normal
(that carries two copies of the
normal
gene, and therefore neither suffer nor can
transmit
the
disease
) is 25%.
These probabilities are independent for
each
pregnancy
.
Signs and symptoms.
The
children
seemed
normal
the first few months.
After starting to ignore her for about
a
year and already have
a
mental disability, which makes them
irritable
,
restless
and destructive.
Convulsions can occur.
Dry skin, skin rashes and smell like mold.
They have blond hair and developed well.
Risk Factors.
It
has
already been mentioned the pattern of inheritance of the
disease
.
Food rich in phenylalanine.
Non - lactating
mother
.
Prevention.
Early diagnosis by amniocentesis or chorionic biopsy in the first weeks of
pregnancy
.
Their detection is part of the battery of tests that are done routinely to newborns, as part of screening programs for metabulopatías (
metabolic
defects) driven by the
Health
Authorities.
The low phenylalanine diet should start before the fourth week of life.
Genetic
counseling for parents.
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