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Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.

Authors :
Karissa P
Simpson T
Dawson SP
Low TY
Tay SH
Nordin FDA
Zain SM
Lee PY
Pung YF
Source :
British journal of biomedical science [Br J Biomed Sci] 2022 May 19; Vol. 79, pp. 10382. Date of Electronic Publication: 2022 May 19 (Print Publication: 2022).
Publication Year :
2022

Abstract

Pyruvate dehydrogenase (PDH) deficiency is caused by a number of pathogenic variants and the most common are found in the PDHA1 gene. The PDHA1 gene encodes one of the subunits of the PDH enzyme found in a carbohydrate metabolism pathway involved in energy production. Pathogenic variants of PDHA1 gene usually impact the α-subunit of PDH causing energy reduction. It potentially leads to increased mortality in sufferers. Potential treatments for this disease include dichloroacetate and phenylbutyrate, previously used for other diseases such as cancer and maple syrup urine disease. However, not much is known about their efficacy in treating PDH deficiency. Effective treatment for PDH deficiency is crucial as carbohydrate is needed in a healthy diet and rice is the staple food for a large portion of the Asian population. This review analysed the efficacy of dichloroacetate and phenylbutyrate as potential treatments for PDH deficiency caused by PDHA1 pathogenic variants. Based on the findings of this review, dichloroacetate will have an effect on most PDHA1 pathogenic variant and can act as a temporary treatment to reduce the lactic acidosis, a common symptom of PDH deficiency. Phenylbutyrate can only be used on patients with certain pathogenic variants (p.P221L, p.R234G, p.G249R, p.R349C, p.R349H) on the PDH protein. It is hoped that the review would provide an insight into these treatments and improve the quality of lives for patients with PDH deficiency.<br />Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.<br /> (Copyright © 2022 Karissa, Simpson, Dawson, Low, Tay, Nordin, Zain, Lee and Pung.)

Details

Language :
English
ISSN :
2474-0896
Volume :
79
Database :
MEDLINE
Journal :
British journal of biomedical science
Publication Type :
Academic Journal
Accession number :
35996497
Full Text :
https://doi.org/10.3389/bjbs.2022.10382