Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity

Kelli C. Lund; Brian Scottoline; Brian K. Jordan

doi:10.1055/s-0041-1723960

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2023; 12(02): 179-183
DOI: 10.1055/s-0041-1723960

Case-Based Review

Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity

Authors

Kelli C. Lund

¹Department of Pediatrics, Division of Neonatology, University of Utah, Salt Lake City, Utah, United States
Brian Scottoline

²Division of Neonatology, Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon, United States
Brian K. Jordan

²Division of Neonatology, Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon, United States

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.

Keywords

carnitine-acylcarnitine translocase deficiency - CACT - prematurity

Volltext

Referenzen

References
1 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY. CACTD # 212138. Accessed September 14, 2020 at https://www.omim.org/entry/212138
2 Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont J-P. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 1992; 327 (01) 19-23
3 Wang GL, Wang J, Douglas G. et al. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Mol Genet Metab 2011; 103 (04) 349-357
4 Indiveri C, Iacobazzi V, Tonazzi A. et al. The mitochondrial carnitine/acylcarnitine carrier: function, structure and physiopathology. Mol Aspects Med 2011; 32 (4-6): 223-233
5 Pande SV, Murthy MSR. Carnitine-acylcarnitine translocase deficiency: implications in human pathology. Biochim Biophys Acta 1994; 1226 (03) 269-276
6 Agostoni C, Buonocore G, Carnielli VP. et al; ESPGHAN Committee on Nutrition. Enteral nutrient supply for preterm infants: commentary from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition Committee on Nutrition. J Pediatr Gastroenterol Nutr 2010; 50 (01) 85-91
7 Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJA. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol Aspects Med 2004; 25 (5-6): 521-532
8 Vitoria I, Martín-Hernández E, Peña-Quintana L. et al. Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. In: Zschocke J, Baumgartner M, Morava E, Patterson M, Rahman S, Peters V. eds. JIMD Reports, Volume 20 Berlin: Springer; 2015: 11-20
9 Orphanet: Carnitine acylcarnitine translocase deficiency. Accessed October 23, 2020 at https://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=159
10 Mahapatra S, Ananth A, Baugh N, Damian M, Enns GM. Triheptanoin: a rescue therapy for cardiogenic shock in carnitine-acylcarnitine translocase deficiency. JIMD Rep 2018; 39: 19-23
11 Costa C, Costa JM, Slama A. et al. Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. Mol Genet Metab 2003; 78 (01) 68-73
12 Morris AAM, Olpin SE, Brivet M, Turnbull DM, Jones RAK, Leonard JV. A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. J Pediatr 1998; 132 (3 Pt 1): 514-516
13 Olpin SE, Bonham JR, Downing M. et al. Carnitine-acylcarnitine translocase deficiency--a mild phenotype. J Inherit Metab Dis 1997; 20 (05) 714-715
14 Fearing MK, Israel EJ, Sahai I, Rapalino O, Lisovsky M. Case 12–2011: A 9-Month-Old Boy with Acute Liver Failure. N Engl J Med 2011; 364: 1545-1556
15 Fukushima T, Kaneoka H, Yasuno T. et al. Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. J Hum Genet 2013; 58 (12) 788-793
16 Clark RH, Kelleher AS, Chace DH, Spitzer AR. Gestational age and age at sampling influence metabolic profiles in premature infants. Pediatrics 2014; 134 (01) e37-e46
17 Brivet M, Slama A, Ogier H. et al. Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. J Inherit Metab Dis 1994; 17 (03) 271-274
18 Kelley LA, Mezulis S, Yates CM, Wass MN, Sternberg MJE. The Phyre2 web portal for protein modeling, prediction and analysis. Nat Protoc 2015; 10 (06) 845-858
19 Reynolds CR, Islam SA, Sternberg MJE. EzMol: a web server wizard for the rapid visualization and image production of protein and nucleic acid structures. J Mol Biol 2018; 430 (15) 2244-2248