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[Hyperphenylanalinemia and phenylketonuria. The importance of early diagnosis and follow up at a health center]. 1991

J Campistol Plana, and L Alvarez Domińguez, and A T Riverola de Veciana, and P Castillo Rivera, and P Giner Soria
Servicio de Neurología, Hospital San Juan de Dios, Barcelona.

We made a review of the state of patients diagnosed of hyperphenylalaninemia in the Center for Neonatal Screening and managed in a Reference Center for Cataluña. The same protocol of treatment and follow up clinical-biochemical-dietitian was used in the 31 patients. The patients diagnosed early were classified in two groups using as criterion of selection the phenylalaninemia and the tolerance to exogen phenylalanine. In the first group we included children with levels of phenylalanine below 10 mg/dl and without dietary restriction, while the children of the second group had levels above 10 mg/dl and receiving dietetic restriction of this specific aminoacid. The evolution of all patients was satisfactory as we can observe on the results; in the same way the patients PKU diagnosed in late state were all with mental retardation. Finally we commented different problems presented in the management of this patients.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D010649 Phenylalanine An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE. Endorphenyl,L-Phenylalanine,Phenylalanine, L-Isomer,L-Isomer Phenylalanine,Phenylalanine, L Isomer
D010661 Phenylketonurias A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). Biopterin Deficiency,Dihydropteridine Reductase Deficiency Disease,Hyperphenylalaninemia, Non-Phenylketonuric,Phenylalanine Hydroxylase Deficiency Disease,BH4 Deficiency,DHPR Deficiency,Deficiency Disease, Dihydropteridine Reductase,Deficiency Disease, Phenylalanine Hydroxylase,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Dihydropteridine Reductase Deficiency,Folling Disease,Folling's Disease,HPABH4C,Hyperphenylalaninaemia,Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism,Hyperphenylalaninemia, BH4-Deficient, C,Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency,Non-Phenylketonuric Hyperphenylalaninemia,Oligophrenia Phenylpyruvica,PAH Deficiency,PKU, Atypical,Phenylalanine Hydroxylase Deficiency,Phenylalanine Hydroxylase Deficiency Disease, Severe,Phenylketonuria,Phenylketonuria I,Phenylketonuria II,Phenylketonuria Type 2,Phenylketonuria, Atypical,Phenylketonuria, Classical,QDPR Deficiency,Quinoid Dihydropteridine Reductase Deficiency,Tetrahydrobiopterin Deficiency,Atypical PKU,Atypical Phenylketonuria,Biopterin Deficiencies,Classical Phenylketonuria,Deficiency, BH4,Deficiency, Biopterin,Deficiency, DHPR,Deficiency, Dihydropteridine Reductase,Deficiency, PAH,Deficiency, Phenylalanine Hydroxylase,Deficiency, QDPR,Deficiency, Tetrahydrobiopterin,Disease, Folling,Disease, Folling's,Hyperphenylalaninemia, Non Phenylketonuric,Non Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004035 Diet Therapy Adjusting the quantity and quality of food intake to improve health status of an individual. This term does not include the methods of food intake (NUTRITIONAL SUPPORT). Diet Therapy, Restrictive,Dietary Modification,Dietary Restriction,Restriction Diet Therapies,Restriction Diet Therapy,Restrictive Diet Therapies,Restrictive Diet Therapy,Diet Modification,Therapy, Diet,Diet Modifications,Diet Therapies,Diet Therapies, Restriction,Diet Therapy, Restriction,Dietary Modifications,Dietary Restrictions,Modification, Diet,Modification, Dietary,Restriction, Dietary,Therapy, Restriction Diet,Therapy, Restrictive Diet
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013030 Spain Country located between France on the northeast and Portugal on the west and bordered by the Atlantic Ocean and the Mediterranean Sea. The capital is Madrid. Balearic Islands,Canary Islands
D013997 Time Factors Elements of limited time intervals, contributing to particular results or situations. Time Series,Factor, Time,Time Factor

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