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Yang, C. Carnitine-Acylcarnitine Translocase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5182 (accessed on 25 July 2024).
Yang C. Carnitine-Acylcarnitine Translocase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5182. Accessed July 25, 2024.
Yang, Catherine. "Carnitine-Acylcarnitine Translocase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5182 (accessed July 25, 2024).
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
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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

1. Introduction

Many infants with CACT deficiency do not survive the newborn period. Some affected individuals have a less severe form of the condition and do not develop signs and symptoms until early childhood. These individuals are at risk for liver failure, nervous system damage, coma, and sudden death.

2. Frequency

CACT deficiency is very rare; at least 30 cases have been reported.

3. Causes

Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are joined with carnitine, the CACT protein transports them into mitochondria. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.

Although mutations in the SLC25A20 gene change the structure of the CACT protein in different ways, they all lead to a shortage (deficiency) of the transporter. Without enough functional CACT protein, long-chain fatty acids cannot be transported into mitochondria. As a result, these fatty acids are not converted to energy. Reduced energy production can lead to some of the features of CACT deficiency, such as hypoketotic hypoglycemia. Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.

3.1. The Gene Associated with Carnitine-acylcarnitine Translocase Deficiency

  • SLC25A20

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

  • CACT deficiency
  • carnitine acylcarnitine translocase deficiency
  • carnitine-acylcarnitine carrier deficiency

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
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Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 19 Apr 2021
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