Carnitine palmitoyltransferase I deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Carnitine palmitoyltransferase I deficiency
Carnitine
ICD-9	277.85
OMIM	255120
DiseasesDB	32535

Overview

Carnitine palmitoyltransferase I deficiency is a rare condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down.

Pathophysiology

Genetics

Mutations in the CPT1A gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed. As a result, excessive levels of long-chain fatty acids may build up in tissues, damaging the liver, heart, and brain.

This condition is inherited in an autosomal recessive pattern.

Associated Conditions

• Primary carnitine deficiency
• Carnitine palmitoyltransferase II deficiency

Causes

Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency.

Differentiating from other Diseases

This condition is sometimes mistaken for Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

Diagnosis

Symptoms

• Muscle weakness

Physical Examination

Abdomen

• Hepatomegaly

Laboratory Findings

• Low levels ketones
• Hypoglycemia
• Elevated levels of carnitine

References

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