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Genetic and Rare Diseases Information Center (GARD)

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

The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine-acylcarnitine translocase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Atrioventricular block -
Autosomal recessive inheritance -
Bradycardia -
Cardiomyopathy -
Cardiorespiratory arrest -
Coma -
Dicarboxylic aciduria -
Elevated hepatic transaminases -
Elevated serum creatine phosphokinase -
Hepatomegaly -
Hyperammonemia -
Hypoglycemia -
Hypotension -
Irritability -
Lethargy -
Muscle weakness -
Muscular hypotonia -
Rhabdomyolysis -
Seizures -
Ventricular extrasystoles -
Ventricular hypertrophy -
Ventricular tachycardia -

Last updated: 7/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

  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.

See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.