In Mexico, one in every 20 thousand children born alive suffers from phenylketonuria. A disease considered to be a minority or orphan, which appears with low frequency, presents diagnostic and monitoring difficulties, and has an unknown origin in most cases.
This hereditary condition in which both parents must transmit the defective gene, is a genetic disorder of the metabolism that does not allow to process the phenylalanine that comes from the proteins of milk, egg, meat, fish or legumes …
In these patients phenylalanine it accumulates and if they do not receive timely treatment they have affectations in the central nervous system and, even, can present irreversible brain damage.
Phenylalanine plays a role in the body's production of melanin, the pigment responsible for the color of skin and hair. Therefore, children with this condition usually have lighter complexion, hair and eyes than their siblings.
Other symptoms can be: Delay of mental and social skills, head size considerably below normal, hyperactivity, spasmodic movements of arms and legs, intellectual disability, seizures, skin rash, tremors, unusual posture of the hands ...
Those people who are not treated or do not avoid foods with phenylalanine and they have this disease, they give off a strange odor in their breath, skin and urine. This is due to the accumulation of this substance in the body.
Phenylketonuria is treatable and a series of preventions will suffice to ensure healthy growth of children who suffer from it, such as a restrictive diet using phenylalanine-free formulas as well as periodic clinical evaluations. It can also be easily detected with a simple blood test, through neonatal screening.
It is important that those parents who have Phenylketonuric children be aware of the consequences that could result from not treating them or performing the diet properly.
If a couple does not know if the disease can carry the gene, It is essential that before carrying out the respective enzymatic analyzes. Women suffering from phenylketonuria should have a strict diet, before, during and after pregnancy, even if the baby was born without the defective gene, because the accumulation of this substance in the mother's body could cause consequences in the child's organism .
Please take care…!