Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids.
Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanine hydroxylase. A low phenylalanine (Phe) diet is used to treat PKU. The diet is very restrictive, and dietary adherence tends to decrease as patients get older. Methods to improve dietary adherence and blood Phe control are continuously under investigation.



A new formula Phe-neutral amino acid (PheLNAA) has been tested in this study with the purpose of improving the compliance and lowering blood phenylalanine. The formula has been tested for nitrogen balance, and it is nutritionally complete. It is fortified with more nutritional additives that can be deficient in the PKU diet, such as B12, Biotin, DHA, Lutein and increased levels of large neutral amino acids to help lower blood Phe. The new formula has been tested on 12 patients with a loading test of 4 weeks.



Fifty-eight percent of patients had a significant decline in blood Phe concentration from baseline throughout the study. The PheLNAA was well tolerated with excellent compliance and without illnesses during the study.



In conclusion, the new formula is suitable for life-long treatment of PKU, and it offers the PKU clinic a new choice for treatment.
Department of Medical and Surgical Science, Pediatrics Unit, University 'Magna Graecia', Catanzaro, Italy.
D
D
Concolino
Department of Medical and Surgical Science, Pediatrics Unit, University 'Magna Graecia', Catanzaro, Italy.
I
I
Mascaro
Department of Medical and Surgical Science, Pediatrics Unit, University 'Magna Graecia', Catanzaro, Italy.
M T
MT
Moricca
Department of Medical and Surgical Science, Pediatrics Unit, University 'Magna Graecia', Catanzaro, Italy.
G
G
Bonapace
Department of Health and Human Performance, University of Houston, Houston, TX, USA.
K
K
Matalon
Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA.
J
J
Trapasso
Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA.
G
G
Radhakrishnan
Department of Public Health and Infectious Diseases, Sapienza University, Rome, Italy.
C
C
Ferrara
Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA.
R
R
Matalon
Department of Translational medical Science, Section of Pediatrics, Federico II University, Naples, Italy.
P
P
Strisciuglio
D000293:Adolescent; D021542:Amino Acids, Neutral / Q000008:administration & dosage*; D005260:Female; D005526:Food, Formulated; D005527:Food, Fortified; D006801:Humans; D008297:Male; D010349:Patient Compliance / Q000523:psychology; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000097:blood / Q000178:diet therapy* / Q000523:psychology; D016896:Treatment Outcome
D021542:Amino Acids, Neutral; D010649:Phenylalanine