Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

  • Isidro VitoriaEmail author
  • Elena Martín-Hernández
  • Luis Peña-Quintana
  • María Bueno
  • Pilar Quijada-Fraile
  • Jaime Dalmau
  • Sofia Molina-Marrero
  • Belén Pérez
  • Begoña Merinero
Research Report
Part of the JIMD Reports book series (JIMD, volume 20)


Background: Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive disease in the mitochondrial transport of long-chain fatty acids. Despite early diagnosis and treatment, the disease still has a high mortality rate.

Methods: Clinical symptoms, long-term follow-up, and biochemical and molecular results of four cases are described and compared with the reviewed literature data of 55 cases.

Results: Two cases with neonatal onset, carrying in homozygosity the novel variant sequences p.Gly20Asp (c.59G>A) and p.Arg179Gly (c.536A>G), died during an intercurrent infectious process in the first year of life despite adequate dietetic treatment (frequent feeding, high-carbohydrate/low-fat diet, MCT, carnitine). The other two cases, one with infantile onset and the other diagnosed in the newborn period after a previous affected sibling, show excellent development at 4 and 16 years of age under treatment. The review shows that the most frequent presenting symptoms of CACT deficiency are hypoketotic hypoglycemia, hyperammonemia, hepatomegaly, cardiomyopathy and/or arrhythmia, and respiratory distress. The onset of symptoms is predominantly neonatal in 82% and infantile in 18%. The mortality rate is high (65%), most in the first year of life due to myocardiopathy or sudden death. Outcomes seem to correlate better with the absence of cardiac disease and with a higher long-chain fatty acid oxidation rate in cultured fibroblasts than with residual enzyme activity.

Conclusion: Diagnosis before the occurrence of clinical symptoms by tandem MS–MS and very early therapeutic intervention together with good dietary compliance could lead to a better prognosis, especially in milder clinical cases.


Carnitine-acylcarnitine translocase deficiency Hyperammonemia Mitochondrial fatty acid oxidation 



The authors would like to thank the families for giving their consent. We are grateful to Dr. Nerea Gorria from Hospital General Yagüe in Burgos for supplying the first clinical data from case 3. We gratefully acknowledge the funding by Mitolab (S2010/BMD-2402) DGUI Comunidad de Madrid.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Isidro Vitoria
    • 1
    Email author
  • Elena Martín-Hernández
    • 2
  • Luis Peña-Quintana
    • 3
  • María Bueno
    • 4
  • Pilar Quijada-Fraile
    • 2
  • Jaime Dalmau
    • 1
  • Sofia Molina-Marrero
    • 3
  • Belén Pérez
    • 5
  • Begoña Merinero
    • 5
  1. 1.Unit of MetabolopathiesHospital la FeValenciaSpain
  2. 2.Hospital Doce de OctubreMadridSpain
  3. 3.Hospital Universitario Materno Infantil, Universidad de Las Palmas de Gran CanariaLas PalmasSpain
  4. 4.Hospital Virgen del RocíoSevillaSpain
  5. 5.CEDEM, CIBERER; IDIPAZ, Universidad Autónoma MadridMadridSpain

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