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Yang, C. Carnitine-Acylcarnitine Translocase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5182 (accessed on 22 September 2026).
Yang C. Carnitine-Acylcarnitine Translocase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5182. Accessed September 22, 2026.
Yang, Catherine. "Carnitine-Acylcarnitine Translocase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5182 (accessed September 22, 2026).
Yang, C. (2020, December 24). Carnitine-Acylcarnitine Translocase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5182
Yang, Catherine. "Carnitine-Acylcarnitine Translocase Deficiency." Encyclopedia. Web. 24 December, 2020.
Carnitine-Acylcarnitine Translocase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency

Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).

genetic conditions

References

  1. Geven WB, Niezen-Koning KE, Timmer A, van Loon AJ, Wanders RJ, van SpronsenFJ. Pre-eclampsia in a woman whose child suffered from lethalcarnitine-acylcarnitine translocase deficiency. BJOG. 2007 Aug;114(8):1028-30.
  2. Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B,Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F,Taroni F. Molecular and functional analysis of SLC25A20 mutations causingcarnitine-acylcarnitine translocase deficiency. Hum Mutat. 2004 Oct;24(4):312-20.
  3. Korman SH, Pitt JJ, Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M.A novel SLC25A20 splicing mutation in patients of different ethnic origin withneonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. MolGenet Metab. 2006 Dec;89(4):332-8.
  4. Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transportand the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May15;142C(2):77-85. Review.
  5. Lopriore E, Gemke RJ, Verhoeven NM, Jakobs C, Wanders RJ, Roeleveld-VersteegAB, Poll-The BT. Carnitine-acylcarnitine translocase deficiency: phenotype,residual enzyme activity and outcome. Eur J Pediatr. 2001 Feb;160(2):101-4.Review.
  6. Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol AspectsMed. 2004 Oct-Dec;25(5-6):521-32. Review.
  7. Vitoria I, Martín-Hernández E, Peña-Quintana L, Bueno M, Quijada-Fraile P,Dalmau J, Molina-Marrero S, Pérez B, Merinero B. Carnitine-acylcarnitinetranslocase deficiency: experience with four cases in Spain and review of theliterature. JIMD Rep. 2015;20:11-20. doi: 10.1007/8904_2014_382.
  8. Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K,Schmitt ES, Zhang W, Wong LJ. Expanded molecular features of carnitineacyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001.
  9. Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis. 2010 Oct;33(5):501-6. doi: 10.1007/s10545-009-9001-1.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Update Date: 19 Apr 2021
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