A 34-year-old woman, a national girl, was referred from the Neurology Ward of Argentina to the Metabolic Diseases Unit of the Hospital Ramón y Cajal, in order to rule out severe metabolic disease 12 years old and having two fathers.
The patient reported having had another child who, due to cardiac arrest, died at 3 months of age.
She was married, had normal speech and performed activities of daily living.
Sometimes he had problems with the change of money and had not been able to complete his studies, but he could read, write, add, subtract, multiply and observe (only 1 figure).
An intellectual coefficient of 70-75 was estimated, corresponding to a mild mental retardation plus mental retardation.
He did not undergo any treatment or reported known diseases and had no family history of interest.
In both children Phe levels were normal, 70 and 92 micromol/L. However, Phe levels were determined in the patient, being 1,140 micromol/L (normal < 120 micromol/L).
Levels of Phe at diagnosis, between 660 and 1,200 micromol/L, determine a classification phenotype PKU distinct phenotype.
The differential diagnosis was made with disorders in the metabolism of pterins, whose study was normal.
The following mutational changes were found in the PAH gene: c.165delT (p.Phe55fs) / c.q62G > A (p.Val388Met mutation carriers only).
After the diagnosis of Fenylketonuria in the mother, an overload of Tetrahydrobiopterin (BH4) was performed to rule out a possible response to this pharmacological treatment, because in some patients they did not respond so much
1.
Treatment was initiated with a phenylalanine-limited diet in order to maintain phenylalanine levels below 660 micromol/L (maximum permitted levels in adults without pregnancy) and weekly phenylalanine control.
To this end, we adjusted the diet to 20-25 g of proteins of high biological value / (PAVB: dairy, eggs, meat, cheese, cheeses, cheeses, natural bread, pasta® and corn juice), with corn (5
60 g of special proteins without phenylalanine (PrXPhe vitamin reactivitylan) were added to PAVB in 4 doses/day, in the form of special preparations containing essential fatty acids without phenyl.
The weekly evolution of Phe over the first 3 months of follow-up showed levels of 498 ± 15 micromoles/L. Subsequently, the family returned to Argentina where it is currently under treatment.
