We attended some 27 people among which were attended by Dr. Javier de las Heras and commercial Josu SHS laboratories.
The talk began at 12 hours which Dr. Aldamiz made ??a comparison of what is a blockage in the acidemias. He did it with a trailer on the highway you have to find that hole you left when you cross or scissors to make passing the other cars.
In acidemias are meeting new complications that were not described as patients were only pediatric age, as these patients get older is when they get to know these new complications.
metabolic diseases intermediate
metabolic pathways closely related to each
nonspecific symptoms for each disease
Symptoms of disease groups
clinical biochemical screening criteria.
Intoxication is an accumulation of different compounds intracellular metabolic block next to it creates:
organic acidurias deficiencies of the urea cycle
deficiency in the production or utilization of energy
Acid-base disturbances: organic acidurias: metabolic acidosis, hyperammonemia, hypoglycemia, ketonuria.
Diet, low natural protein AA supplement specific cofactors drugs.
The affected amino acids are organic acidemias:
Methylmalonic and propionic acidemia: methionine, valine, threonine, isoleucine.
Isovaleric Aciemia leucine
Glutaric aciduria type 1: lysine and tryptophan.
For preventing toxic accumulation of amino acids prescribed a vitamin, minerals. To prevent catabolism not long maintain fasting. Also when organic academies vaccinations must exercise extreme preventive measures.