Researchers from India reported the case of a baby with fatty acid oxidation disorder who was diagnosed by tandem mass spectrometry, which was later confirmed by genetic testing.
The incidence of all fatty acid oxidation disorders ranges from 1 in 5000 to 1 in 10,000 births, according to reports from Australia, Germany, and the US. However, the incidence of the disease in Asian countries such as India is usually much lower.
The case reported here is that of a female baby who was born to healthy parents who had second-degree consanguinity. She was the second baby born to the parents after the first succumbed to cardiomyopathy at age 3 months.
The baby girl developed neonatal jaundice on day 2 after birth. She was treated with phototherapy for 2 days and recovered. But on day 4, she started refusing breast milk, become lethargic, and had a poor tone and a weak cry.
Read more about the diagnosis of fatty acid oxidation disorders.
She was found to have low blood glucose levels so she was started on 1⁄2 dextrose. Her C-reactive protein levels were also high so she was started on intravenous antibiotics and was given expressed breast milk. But this led her to vomit and gave her loose stools.
Based on her family history, tandem mass spectrometry, and genetic testing, she was diagnosed with fatty acid oxidation disorder and started on medium-chain triglycerides and carnitine supplementation.
The researchers reported that “she was tolerating breast milk with an overall improvement in tone, cry, and sugar levels and was discharged on day 48 of life.”
This case study illustrates the importance of educating pediatricians and other health care providers about fatty acid oxidation disorders and their treatments before patients develop symptoms that can be very serious and even lethal in some cases.
John JB, Kandasamy V, Shankar P, Devanbu VGC. A case of short, medium and very-long-chain fatty acid oxidation disorder in a term infant. Int J Contemp Pediatr. 2022;9(6):627-629. doi:10.18203/2349-3291.ijcp20221386