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J Pediatr Genet 2023; 12(02): 179-183
DOI: 10.1055/s-0041-1723960
DOI: 10.1055/s-0041-1723960
Case-Based Review
Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity
Funding This manuscript was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health under award number KL2 TR002370 and NIH National Heart, Lung, and Blood Institute under award number K23 HL144918.
Abstract
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of long chain fatty acid oxidation with a very high mortality rate due to cardiomyopathy or multiorgan failure. We present the course of a very premature infant with early onset CACT deficiency complicated by multiple episodes of necrotizing enterocolitis, sepsis, and liver insufficiency, followed by eventual demise. The complications of prematurity, potentiated by the overlay of CACT deficiency, contributed to the difficulty of reaching the ultimate diagnosis of CACT deficiency.
Publication History
Received: 27 October 2020
Accepted: 01 January 2020
Article published online:
17 February 2021
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