Early diagnosis and management of hyperphenylalaninemiaSeventeen newborn oalients with serum phenylalanine concentrations 16.5 to 46.2 mg/dl are described to enhance local interest in phenylketonuria screening and early management. Diagnosis was comfirmed at age 20.3 ± 1 2.6 days and before age 30 days with only two exeptions. All patients started dietary treatment at diagnosis and have beer Allowed up from t^-en on at an University of Chile's Institute for Nutrition and Food Technology outpatient clinic. Serum phenylalanine concentrations along follow up have been crround 2 to 6 mg/dl even though transient noncorr.pliances with dietary restrictions were associated with serum levels of 1 8 mg/dl. Psychomotor development has been normal to date in fifteen oatients, one patient has some slight retardation which is at least partially related to low social and cultural conditions, while the other one is under study because of a hypotonic syndrome. Body growth has been normal exept by one patient which required early heart surgery for tricuspid atresia and the one afected by the hypotonic syndrome.

CitrulinemiaClinical, laboratory and follow up feolures of three patients whith Citrulinemia lhat was identified at ages three months, seven days and seven months are described. AH Ihese palients had abnormal blood amonia (> 200 JJg/dl] and their serum citruline concentrations were 353, 1 759, 289 nn/ml respectively. Nutritional treatment induced a low protein, high calories diet with L-carnitine (100 mg x kg x day), L-arginine [70 to 1 20 mg x kg x day), together with mineral and vitamine supplements. Earlier clinical symptoms are related to more severe argininosuccinale synthetase deficiency and to worse biochemical abnormalities and clinical course.Only one of our palients had ihe acute neonatal form of ihe disease and he was also the one that had the highest blood and urine citruline levels.(