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...
Autores principales: | , |
---|---|
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 |