Journal of Pediatric Biochemistry 2016; 06(01): 011-018
DOI: 10.1055/s-0036-1582237
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Hyperphenylalaninemia: From Diagnosis to Therapy

Daniela Procopio
1  Department of Medical and Surgical Sciences, Pediatrics Unit, University “Magna Graecia,” Catanzaro, Italy
,
Italia Mascaro
1  Department of Medical and Surgical Sciences, Pediatrics Unit, University “Magna Graecia,” Catanzaro, Italy
,
Stefania Ferraro
1  Department of Medical and Surgical Sciences, Pediatrics Unit, University “Magna Graecia,” Catanzaro, Italy
,
Ferdinando Ceravolo
1  Department of Medical and Surgical Sciences, Pediatrics Unit, University “Magna Graecia,” Catanzaro, Italy
,
Maria Teresa Moricca
1  Department of Medical and Surgical Sciences, Pediatrics Unit, University “Magna Graecia,” Catanzaro, Italy
,
Vincenzo Salpietro
2  Department of Pediatrics, University of Messina, Messina, Italy
3  Institute of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College, London Hospitals, London, United Kingdom
,
Agata Polizzi
4  National Centre for Rare Diseases, Istituto Superiore di Sanità, Roma, Italy
,
Martino Ruggieri
5  Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Giuseppe Bonapace
1  Department of Medical and Surgical Sciences, Pediatrics Unit, University “Magna Graecia,” Catanzaro, Italy
,
Daniela Concolino
1  Department of Medical and Surgical Sciences, Pediatrics Unit, University “Magna Graecia,” Catanzaro, Italy
› Author Affiliations
Further Information

Publication History

10 December 2015

20 January 2016

Publication Date:
26 April 2016 (online)

Abstract

Hyperphenylalaninemia (HPA) is a biochemical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine (Phe) in the blood. HPA is commonly diagnosed by newborn screening. The primary cause of HPA is phenylketonuria (PKU), an inborn error of metabolism characterized by persistently elevated plasma concentrations of Phe secondary to a total or partial deficiency of the liver enzyme phenylalanine hydroxylase. The treatment of babies affected with PKU is based on a Phe-restricted diet, aiming to maintain blood Phe concentrations within a range of 120 to 360 μmol/L to prevent the spectrum of neurological disorders associated with PKU, that is, microcephaly, learning disability, epilepsy, pyramidal and extrapyramidal signs, and behavioral changes. This metabolic disorder mainly affects the white matter (e.g., dysmyelination, demyelination, and hypomyelination) and the cortical-subcortical structures. A delay in starting the dietary treatment, or an inadequate Phe-restricted diet, may relentlessly lead to brain damage.