Abstract

SANCHEZ-PENA, Alejandra et al. Neurological sequelae in three patients with late-diagnosed classic phenylketonuria. Bol. Med. Hosp. Infant. Mex. [online]. 2008, vol.65, n.3, pp.191-195. ISSN 1665-1146.

Introduction. Phenylketonuria is a genetic disease that can be diagnosed easily and treated promptly avoiding long-term disabilities. Nevertheless, some children still lack neonatal screening as well as appropriate diagnosis, and they may present serious irreversible neurological damage. Case report. We report 3 cases. Case 1 is a 12 month-old female with motor and developmental delay. Phenylalanine levéis were 1 285 μmol/L (normal values 31-75 μmol/L). Her sister (case 2) was a 6 year-old mentally retarded child previously thought to be due to hypoxic-ischemic encephalopathy; her phenylalanine levéis were 1 729 μmol/L. Case 3 describes a 10 year-old female with developmental delay, hyperactivity, anxiety, irritability, microcephaly, light-colored hair, and white skin. Phenylalanine levéis were 1170 μmol/L. A low-phenylalanine diet was prescribed for each patient. One month later they were evaluated and showed significantly reduced phenylalanine levéis (50%). Currently, they maintain normal values and show im-portant physical and neurological improvement. Conclusions. In cases of late-diagnosed phenylketonuria, a prompt treatment with a strict nutritional management may revert some of the neurological damage developed in these patients.

Keywords : Phenylketonuria; phenylalanine; neonatal screening; mental retardation; dietary restrictions.