Deficiencies of carnitine, carnitine acyltransferases, or carnitine/acylcarnitine translocase affect the metabolism of long-chain fatty acids. Many of the symptoms are similar, and include hypoketotic hypoglycemia (low ketone levels and low blood sugar with fasting), and damage to the liver, heart, or muscles due to fatty acid buildup in those tissues. Symptom severity varies with the form of the deficiency. The following abbreviations are used: carnitine acyltransferase (carnitine palmitoyltransferase), CPT and carnitine/acylcarnitine translocase, CACT. Identify each symptom or effect as a deficiency of CPT I, CPT II, CACT, or both CPT I and CACT. One bin will remain empty.

Carnitine-acylcarnitine translocase deficiency (CACT deficiency) is a disease in which the body cannot process certain fats called long-chain fatty acids to convert them into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired primarily through diet, is necessary for cells to process fats and produce energy. People with this disorder have a defective "transporter" (CACT) that prevents carnitine's normal role in processing long-chain fatty acids.

There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type is severe and occurs in newborns. A milder, less common type occurs in older children. Most patients with CACT deficiency have the severe type, which occurs during the first 48 hours of life with low blood sugar and high levels of ketone and ammonia bodies, increased heart muscle, and rhythm of the heartbeat. abnormal heart, as well as muscle and liver problems, and low body temperature. There may also be neurological problems, seizures, and developmental delay, and in rare cases, sudden infant death.

Explanation:

The disease is caused by mutations in the SLC25A20 gene. Treatment is done by avoiding fasting and dieting with medium chain triglyceride (MCT) supplementation and with few long chain fatty acids.

Carnitine-acylcarnitine translocase deficiency is classified within the group of diseases known as "fatty acid oxidation disorders".