Treating phenylketonuria: a single centre experience.
Hyperphenylalaninaemia (HPA) is an inherited disorder that results in raised plasma phenylalanine levels with a range of severities, including phenylketonuria (PKU). Since the first attempts at treatment using a low-phenylalanine diet and after more than 50 years of research, considerable progress has been made so we are now at a stage where mental retardation caused by high plasma phenylalanine can be prevented. We must, however, be aware of the new challenges we face in managing PKU. These include: maintaining optimal growth by providing enough phenylalanine without jeopardizing the child's psychomotor development; providing an optimal nutritional status that ensures other essential nutrients, such as long chain polyunsaturated fatty acids, are not excluded from the diet; ensuring optimal compliance to the dietary intervention; and considering patients' quality of life. New strategies, such as tetrahydrobiopterin (BH4) supplementation, need to be evaluated with regard to safety, efficacy and expected outcomes in specific types of HPA.
Department of Paediatrics, San Paolo Hospital, University of Milan, Milan, Italy. marcello.giovannini@unimi.it
M
M
Giovannini
E
E
Riva
E
E
Salvatici
L
L
Fiori
S
S
Paci
E
E
Verduci
C
C
Agostoni
D000886:Anthropometry; D002648:Child; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007360:Intelligence; D007558:Italy; D009752:Nutritional Status; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000503:physiopathology / Q000628:therapy*; D011247:Pregnancy; D015430:Weight Gain
D010649:Phenylalanine