Researchers from the Philippines reported the first case of carnitine-acylcarnitine translocase deficiency (CACTD), a type of long-chain fatty acid oxidation disorder (LCFAOD) in the Filipino population.
“This case highlights the need to follow-up newborn screening results when faced with a critically ill neonate, and the benefit of proper referral to specialists even in the case of neonatal demise,” the study authors concluded.
Read more about the cause of the different types of LCFAOD
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The case is that of a 24-year-old female who had 2 pregnancies and 2 deliveries. However, both her babies died in the neonatal period, for which she sought consultation.
Both babies had a fair cry at birth but did not open their eyes within the first 24 hours. Newborn screening showed high levels of long-chain acylcarnitines and hypocarnitinemia, which suggested a fatty acid oxidation disorder. However, because they died within the first 3 days, no other tests were carried out.
The authors of the study reported that a thorough post-mortem examination is not a common practice in the Philippines in case of neonatal demise and said that they hope that “by sharing this experience, we can broaden the knowledge regarding rare disorders, such as CACTD”.
The carrier testing of the parents revealed that both parents were carriers of a pathogenic variant of the SLC25A20, which is associated with CACTD.
Since it is now known that CACTD is present in the Filippino population, similar manifestations should prompt a high suspicion for the disease, the authors said. This, in turn, should improve diagnosis and treatment.
The case study is published in the International Journal of Neonatal Screening.
CACTD is one of 6 types of LCFAOD. It is caused by a mutation in the SLC25A20 gene, which leads to the middle step of the carnitine shuttle, transporting long-chain fatty acids into the mitochondria and not functioning properly, thereby disrupting the oxidation of long-chain fatty acids.
Reference
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. Int J Neonatal Screen. Published online January 11, 2023. doi:10.3390/ijns9010004
