Carnitine palmitoyltransferase I deficiency (CPT I) - CPT1A gene.

Deficiency Carnitine palmitoyl transferase I (CPT I) is a genetic disorder of metabolism of certain fatty acids for energy, especially during periods of fasting. Early signs and symptoms of CPT I deficiency usually occur in infancy. Hypoketotic affected individuals develop hypoglycemia. People with CPT I deficiency can also develop hepatomegaly, liver malfunction and high concentrations of carnitine in the blood. Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats and energy. People with CPT I deficiency are at serious risk of neurological impairment, liver failure, seizures, coma and sudden death.

Problems related to CPT I deficiency can be caused by periods of fasting or viral infections. This process is sometimes confused with Reye syndrome, a serious illness that can develop in children during periods of convalescence from viral infections such as chicken pox or flu. Most cases of Reye 's syndrome associated with aspirin use during these viral infections.

CPT I deficiency, is caused by mutations in the gene CPT1A, located on the long arm of chromosome 11 (11q13.2), which encodes the enzyme carnitine palmitoyltransferase 1A, found in the liver. This enzyme is essential for the oxidation of fatty acids in mitochondria. Carnitine palmitoyltransferase 1A connects carnitine fatty acids long chain so that they can cross the inner membrane of the mitochondrion. Once inside the mitochondria can be metabolized to produce energy during periods of fasting, especially in the liver and other tissues.

There are more than 20 mutations in the gene in people CPT1A deficient palmitoyl carnitine transferase I (CPT I). Mutations in the gene CPT1A reduce or eliminate the activity of carnitine palmitoyltransferase 1A. Without sufficient amount of this enzyme, carnitine does not bind to fatty acids and long chain non - energy occurs. This energy reduction hypoketotic leads to hypoglycemia. Fatty acids may also accumulate in the cells and damage the liver, heart and brain. This abnormal buildup causes other signs and symptoms of the disease appear.

This disease is inherited in an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.

Tests in IVAMI: in IVAMI perform detection of mutations associated with deficiency palmitoyl carnitine transferase I (CPT I), by complete PCR amplification of exons CPT1A gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).