Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing

Carmona, Suzanne Marie G.; Abacan, Mary Ann R.; Alcausin, Maria Melanie Liberty B.

doi:10.3390/ijns9010004

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Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing

by

Suzanne Marie G. Carmona

^1,*,

Mary Ann R. Abacan

^1,2 and

Maria Melanie Liberty B. Alcausin

^1,2

¹

Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila 1000, Philippines

²

Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila 1000, Philippines

^*

Author to whom correspondence should be addressed.

Int. J. Neonatal Screen. 2023, 9(1), 4; https://doi.org/10.3390/ijns9010004

Submission received: 13 November 2022 / Revised: 5 December 2022 / Accepted: 26 December 2022 / Published: 11 January 2023

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Abstract

Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and hypoglycemia. A high index of suspicion is needed to recognize the disorder. The case is of a 24-year-old G2P2(2000) mother who sought consultation for recurrent neonatal deaths. The neonates, born two years apart, were apparently well at birth but had a fair cry and no spontaneous eye opening within the first 24 h of life and died before the 72nd hour of life. Newborn screening of both babies revealed elevated long chain acylcarnitines and hypocarnitinemia suggestive of a FAOD. However, due to their early demise, no confirmatory tests were done. Parental carrier testing was performed, revealing both parents to be heterozygous carriers of a pathogenic variant, c.199 10T>G (intronic), in the SLC25A20 gene associated with autosomal recessive CACTD. This is the first reported case of CACTD in the Filipino population.

Keywords: carnitine acylcarnitine translocase deficiency (CACTD); fatty acid oxidation defect; c.199 10T>G mutation; SLC25A20

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MDPI and ACS Style

Carmona, S.M.G.; Abacan, M.A.R.; Alcausin, M.M.L.B. Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing. Int. J. Neonatal Screen. 2023, 9, 4. https://doi.org/10.3390/ijns9010004

AMA Style

Carmona SMG, Abacan MAR, Alcausin MMLB. Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing. International Journal of Neonatal Screening. 2023; 9(1):4. https://doi.org/10.3390/ijns9010004

Chicago/Turabian Style

Carmona, Suzanne Marie G., Mary Ann R. Abacan, and Maria Melanie Liberty B. Alcausin. 2023. "Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing" International Journal of Neonatal Screening 9, no. 1: 4. https://doi.org/10.3390/ijns9010004

APA Style

Carmona, S. M. G., Abacan, M. A. R., & Alcausin, M. M. L. B. (2023). Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing. International Journal of Neonatal Screening, 9(1), 4. https://doi.org/10.3390/ijns9010004

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Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing

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