[Classical phenylketonuria. Metabolism inborn errors].
The authors describe pku or phenylketonuria, a congenital type of metabolic alteration which forces those patients who suffer it to follow a dietetic treatment for their entire lives. The authors analyze 1, the biochemical alterations which are produced in the organism and which cause the appearance of them; 2, the genetics involved; 3, the clinical manifestations shown by those who suffer from pku; 4, the diagnosis of this disease; 5, the number of cases in the general public; 6, a bit more extensive section dealing with the nutritional treatment, follow-up and control of this disease; 7, nursing care, fundamentally based on how to educate and counsel patients and their families regarding control methods and problems which commonly occur in dietetic treatment over the course of the various phases in one's life; and 8, the conclusions of this study, whose origin came after intensive contact with the Galician Association of Phenylketonuria and a study of the epidemiological and nutritional situation of sufferers of this disease in Galicia. This study was presented at the Third National "SENC" Congress held in Las Palmas de Gran Canaria.
Rovira Magariños
M J
MJ
Enfermería Médica-II de la E.U.E., Lugo.
Díaz Quiñoa
P
P
Moreno Saavedra
E
E
Seijas Vázquez
M
M
Doval Penelo
M T
MT
D000293:Adolescent; D000328:Adult; D002648:Child; D006801:Humans; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics / Q000628:therapy