Management of patients with phenylketonuria in Mexico

Carnevale, A.; Velázquez, A.; Ruíz, F.; Del Castillo, V.; Carnevale, A; Velázquez, A; Ruíz, F; Del Castillo, V

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Management of patients with phenylketonuria in Mexico

Carnevale, A.; Velázquez, A.; Ruíz, F.; Del Castillo, V.

Boletin Medico del Hospital Infantil de Mexico 36(3): 375-384

1979

ISSN/ISBN: 0539-6115

PMID: 426919

Document Number: 147829

This paper shows the results of the dietary management of 9 children with phenylketonuria diagnosed at the Clinic for Inborn Errores of Metabolism of the Hospital del Niño-Instituto de Investigaciones Biomédicas UNAM. The age at which the diet was instituted was variable: in one case before the age of 8 weeks; in another one at 5 months and in the remainder after 10 months. The management is multidisciplinary and involves a geneticist, a pediatrician, a neurologist a psychologist, a nutritionist, and a social worker. In spite of the difficult control of the diet in some patients, in most cases satisfactory phenylalanine levels were maintained most of the time. The body growth and development have been normal. With regard to the mental development, the results support the importance of an early diagnosis since the case treated from the age of one month has shown normal development; the patient diagnosed at 5 months has had a low normal IQ and the rest, all diagnosed after 10 months of age, show some improvement, but do not reach normal levels. The need of neonatal screening for early diagnosis is emphazised.