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Genetic and Rare Diseases Information Center (GARD)

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Carnitine-acylcarnitine translocase deficiency

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What are the signs and symptoms of carnitine-acylcarnitine translocase deficiency?

The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often present include excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death.[1]

Children with the mild type of carnitine-acylcarnitine translocase deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems.[2]
Last updated: 7/26/2013

  1. Carnitine-acylcarnitine translocase deficiency. Genetics Home Reference. August 2006; Accessed 4/4/2008.
  2. Carnitine-acylcarnitine translocase deficiency. Screening, Technology and Research in Genetics. October 5, 2007; Accessed 4/4/2008.