Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2017 3
2019 3
2020 1
2021 5
2022 2
2023 2
2024 2
2025 1
2026 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

17 results

Results by year

Filters applied: . Clear all
Page 1
Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.
Zhang L, Hu Y, Xie M, Zhang Y, Cen K, Chen L, Cui Y, Li H, Wang D. Zhang L, et al. J Int Med Res. 2023 Apr;51(4):3000605231163811. doi: 10.1177/03000605231163811. J Int Med Res. 2023. PMID: 37115522 Free PMC article.
The current case report describes the clinical, biochemical and genetic characteristics of carnitine-acylcarnitine translocase deficiency (CACTD) in infant male and female twins that presented with symptoms shortly after elective caesarean delivery. .. …
The current case report describes the clinical, biochemical and genetic characteristics of carnitine-acylcarnitine transloc …
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, Coman D, Minto T, Lewis K, Schiff M, Vijay S, Akroyd R, Thompson S, MacDonald A, Woodward AJM, Gribben JEL, Grunewald S, Belaramani K, Hall M, van der Haak N, Devanapalli B, Tolun AA, Wilson C, Bhattacharya K. Ryder B, et al. J Inherit Metab Dis. 2021 Jul;44(4):903-915. doi: 10.1002/jimd.12371. Epub 2021 Mar 29. J Inherit Metab Dis. 2021. PMID: 33634872
Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
Gan Z, Wei X, Zheng Y, Zheng Q, Fan S, Xiong F. Gan Z, et al. Gene. 2025 Mar 10;940:149201. doi: 10.1016/j.gene.2024.149201. Epub 2024 Dec 26. Gene. 2025. PMID: 39732347
BACKGROUND/AIM: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene, leading to energy deficiency and the toxic accumulation of long-ch …
BACKGROUND/AIM: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of …
In Silico Analysis of the Structural Dynamics and Substrate Recognition Determinants of the Human Mitochondrial Carnitine/Acylcarnitine SLC25A20 Transporter.
Pasquadibisceglie A, Quadrotta V, Polticelli F. Pasquadibisceglie A, et al. Int J Mol Sci. 2023 Feb 15;24(4):3946. doi: 10.3390/ijms24043946. Int J Mol Sci. 2023. PMID: 36835358 Free PMC article.
Moreover, analysis of the MD simulations' trajectories of the apo-protein in the two conformational states allowed for a better understanding of the role of SLC25A20 Asp231His and Ala281Val pathogenic mutations, which are at the basis of Carnitine-Acylcarnitine T …
Moreover, analysis of the MD simulations' trajectories of the apo-protein in the two conformational states allowed for a better understandin …
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
Gürbüz BB, Yılmaz DY, Özgül RK, Koşukcu C, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Gürbüz BB, et al. Turk J Pediatr. 2021;63(4):691-696. doi: 10.24953/turkjped.2021.04.017. Turk J Pediatr. 2021. PMID: 34449152 Free article.
BACKGROUND: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare, autosomal recessive, and highly lethal fatty acid oxidation (FAO) disorder caused by defective acylcarnitine transport across the mitochondrial membrane. ...
BACKGROUND: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare, autosomal recessive, and highly le …
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China.
Tang C, Liu S, Wu M, Lin S, Lin Y, Su L, Zhang J, Feng Y, Huang Y. Tang C, et al. Clin Chim Acta. 2019 Aug;495:476-480. doi: 10.1016/j.cca.2019.05.018. Epub 2019 May 17. Clin Chim Acta. 2019. PMID: 31108048
Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation that occurs due to mutations in the SLC25A20 gene. ...
Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial f …
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
Norris MK, Scott AI, Sullivan S, Chang IJ, Lam C, Sun A, Hahn S, Thies JM, Gunnarson M, McKean KN, Merritt JL 2nd. Norris MK, et al. JPEN J Parenter Enteral Nutr. 2021 Feb;45(2):230-238. doi: 10.1002/jpen.2034. Epub 2020 Nov 11. JPEN J Parenter Enteral Nutr. 2021. PMID: 33085788
Substituting triheptanoin for traditional MCT-based treatment improves clinical outcomes. MCT oil might be less effective in carnitine-acylcarnitine translocase deficiency patients compared with other FAODs and needs further investigation....
Substituting triheptanoin for traditional MCT-based treatment improves clinical outcomes. MCT oil might be less effective in carnitine …
17 results