Carnitine palmitoyltransferase I deficiency

Jump to navigation Jump to search

WikiDoc Resources for Carnitine palmitoyltransferase I deficiency

Articles

Most recent articles on Carnitine palmitoyltransferase I deficiency

Most cited articles on Carnitine palmitoyltransferase I deficiency

Review articles on Carnitine palmitoyltransferase I deficiency

Articles on Carnitine palmitoyltransferase I deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Carnitine palmitoyltransferase I deficiency

Images of Carnitine palmitoyltransferase I deficiency

Photos of Carnitine palmitoyltransferase I deficiency

Podcasts & MP3s on Carnitine palmitoyltransferase I deficiency

Videos on Carnitine palmitoyltransferase I deficiency

Evidence Based Medicine

Cochrane Collaboration on Carnitine palmitoyltransferase I deficiency

Bandolier on Carnitine palmitoyltransferase I deficiency

TRIP on Carnitine palmitoyltransferase I deficiency

Clinical Trials

Ongoing Trials on Carnitine palmitoyltransferase I deficiency at Clinical Trials.gov

Trial results on Carnitine palmitoyltransferase I deficiency

Clinical Trials on Carnitine palmitoyltransferase I deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Carnitine palmitoyltransferase I deficiency

NICE Guidance on Carnitine palmitoyltransferase I deficiency

NHS PRODIGY Guidance

FDA on Carnitine palmitoyltransferase I deficiency

CDC on Carnitine palmitoyltransferase I deficiency

Books

Books on Carnitine palmitoyltransferase I deficiency

News

Carnitine palmitoyltransferase I deficiency in the news

Be alerted to news on Carnitine palmitoyltransferase I deficiency

News trends on Carnitine palmitoyltransferase I deficiency

Commentary

Blogs on Carnitine palmitoyltransferase I deficiency

Definitions

Definitions of Carnitine palmitoyltransferase I deficiency

Patient Resources / Community

Patient resources on Carnitine palmitoyltransferase I deficiency

Discussion groups on Carnitine palmitoyltransferase I deficiency

Patient Handouts on Carnitine palmitoyltransferase I deficiency

Directions to Hospitals Treating Carnitine palmitoyltransferase I deficiency

Risk calculators and risk factors for Carnitine palmitoyltransferase I deficiency

Healthcare Provider Resources

Symptoms of Carnitine palmitoyltransferase I deficiency

Causes & Risk Factors for Carnitine palmitoyltransferase I deficiency

Diagnostic studies for Carnitine palmitoyltransferase I deficiency

Treatment of Carnitine palmitoyltransferase I deficiency

Continuing Medical Education (CME)

CME Programs on Carnitine palmitoyltransferase I deficiency

International

Carnitine palmitoyltransferase I deficiency en Espanol

Carnitine palmitoyltransferase I deficiency en Francais

Business

Carnitine palmitoyltransferase I deficiency in the Marketplace

Patents on Carnitine palmitoyltransferase I deficiency

Experimental / Informatics

List of terms related to Carnitine palmitoyltransferase I deficiency

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

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

Physical Examination

Abdomen

Laboratory Findings

References

Template:Metabolic pathology


Template:WikiDoc Sources