Cargando…

Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions

In the category of rare inherited genetic disorders, phenylketonuria is a prominent example. Here, the defective phenylalanine hydroxylase enzyme fails to catalyze conversion of phenylalanine to tyrosine. This leads to not only excess deposition of phenylalanine leading to phenylalanine toxicity but...

Descripción completa

Detalles Bibliográficos
Autores principales: Kumar Dalei, Sudipt, Adlakha, Nidhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785131/
https://www.ncbi.nlm.nih.gov/pubmed/35082498
http://dx.doi.org/10.2147/JMDH.S330845
_version_ 1784638897860378624
author Kumar Dalei, Sudipt
Adlakha, Nidhi
author_facet Kumar Dalei, Sudipt
Adlakha, Nidhi
author_sort Kumar Dalei, Sudipt
collection PubMed
description In the category of rare inherited genetic disorders, phenylketonuria is a prominent example. Here, the defective phenylalanine hydroxylase enzyme fails to catalyze conversion of phenylalanine to tyrosine. This leads to not only excess deposition of phenylalanine leading to phenylalanine toxicity but also precludes the production of important glutamatergic and cholinergic neurotransmitters, leading to epileptic disorders, microcephaly, low intelligence quotient etc. For long, specialized food products are considered as preferred solution to prevent disease outcome. Different medical diets are developed for managing phenylketonuria includes amino acid mixtures, protein hydrolysates, cofactor-based therapy, large neutral amino acids and glycomacropeptides. However, despite the advent of alternate forms of diet products, the central form of treatment has still been free amino acid mixture. The formulated diet is by and large expensive and in-depth evaluation of several factors which contribute to the expense of medicated diet is requisite to create effective yet affordable avenues for management of disease. For this, we have discussed the role of various factors involved in increasing price of medicated diet and presented possible solutions to it. We have also extensively reviewed prevalence of disease, commercial diet for PKU patients, and their associated limitations. Overall, this is the first attempt to present a holistic view of balance between the overall impact of diet associated therapy and weighing it against the associated finances incurred.
format Online
Article
Text
id pubmed-8785131
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Dove
record_format MEDLINE/PubMed
spelling pubmed-87851312022-01-25 Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions Kumar Dalei, Sudipt Adlakha, Nidhi J Multidiscip Healthc Review In the category of rare inherited genetic disorders, phenylketonuria is a prominent example. Here, the defective phenylalanine hydroxylase enzyme fails to catalyze conversion of phenylalanine to tyrosine. This leads to not only excess deposition of phenylalanine leading to phenylalanine toxicity but also precludes the production of important glutamatergic and cholinergic neurotransmitters, leading to epileptic disorders, microcephaly, low intelligence quotient etc. For long, specialized food products are considered as preferred solution to prevent disease outcome. Different medical diets are developed for managing phenylketonuria includes amino acid mixtures, protein hydrolysates, cofactor-based therapy, large neutral amino acids and glycomacropeptides. However, despite the advent of alternate forms of diet products, the central form of treatment has still been free amino acid mixture. The formulated diet is by and large expensive and in-depth evaluation of several factors which contribute to the expense of medicated diet is requisite to create effective yet affordable avenues for management of disease. For this, we have discussed the role of various factors involved in increasing price of medicated diet and presented possible solutions to it. We have also extensively reviewed prevalence of disease, commercial diet for PKU patients, and their associated limitations. Overall, this is the first attempt to present a holistic view of balance between the overall impact of diet associated therapy and weighing it against the associated finances incurred. Dove 2022-01-18 /pmc/articles/PMC8785131/ /pubmed/35082498 http://dx.doi.org/10.2147/JMDH.S330845 Text en © 2022 Kumar Dalei and Adlakha. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Review
Kumar Dalei, Sudipt
Adlakha, Nidhi
Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions
title Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions
title_full Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions
title_fullStr Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions
title_full_unstemmed Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions
title_short Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions
title_sort food regime for phenylketonuria: presenting complications and possible solutions
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785131/
https://www.ncbi.nlm.nih.gov/pubmed/35082498
http://dx.doi.org/10.2147/JMDH.S330845
work_keys_str_mv AT kumardaleisudipt foodregimeforphenylketonuriapresentingcomplicationsandpossiblesolutions
AT adlakhanidhi foodregimeforphenylketonuriapresentingcomplicationsandpossiblesolutions