Primary carnitine deficiency

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Primary carnitine deficiency Classification and external resources
Carnitine
ICD-10	E71.3
ICD-9	277.81
OMIM	212140
DiseasesDB	31103
eMedicine	ped/321

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Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats and produce energy. People with primary carnitine deficiency have defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body.

Presentation

Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and often include brain function abnormalities (encephalopathy); an enlarged, poorly pumping heart (cardiomyopathy); confusion; vomiting; muscle weakness; and low blood sugar (hypoglycemia). Serious complications such as heart failure, liver problems, coma, and sudden unexpected death are also a risk. Acute illness due to primary carnitine deficiency can be triggered by periods of fasting or illnesses such as viral infections, particularly when eating is reduced.

Diagnosis and treatment

Primary carnitine deficiency is sometimes diagnosed in adults and is then thought to be less severe both in symptoms and life expectation. Treatment is usually done by supplementation of L-carnitine after assessing the severity of the deficiency after a muscular biopsy.

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 chickenpox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

Incidence

On the average, primary carnitine deficiency affects 1 in every 40,000 live births in Japan and 1 in every 37,000 to 100,000 newborns in Australia. The incidence of this condition in other populations is unknown, but is probably similar to that reported for Japan.

Biochemistry

Mutations in the SLC22A5 gene lead to the production of defective carnitine transporters. As a result of reduced transport function, carnitine is lost from the body and cells are not supplied with an adequate amount of carnitine. Without carnitine, fats cannot be processed correctly and are not converted into energy, which can lead to characteristic signs and symptoms of this disorder. This condition is inherited in an autosomal recessive pattern.

History

The current understanding of primary carnitine deficiency has been greatly influenced by the research of Doctors Susan C. Winter and Neil Buist. Dr. Winter was one of the first doctors in the United States to begin treating inborn errors of metabolism with intravenous carnitine.

References

This article incorporates public domain text from The U.S. National Library of Medicine

v • d • e Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid	Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storage	Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipid	Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidine	Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
Porphyrin	Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
Bilirubin	Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Glycosaminoglycan	Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Glycoprotein	Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia

v • d • e WikiDoc Research Resources for Primary carnitine deficiency (Click show to right to view)
Articles on Primary carnitine deficiency	Most recent articles on Primary carnitine deficiency • Most cited articles on Primary carnitine deficiency • Review articles on Primary carnitine deficiency • Articles on Primary carnitine deficiency in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Primary carnitine deficiency	Powerpoint slides on Primary carnitine deficiency • Images of Primary carnitine deficiency • Photos of Primary carnitine deficiency • Podcasts & MP3s on Primary carnitine deficiency • Videos on Primary carnitine deficiency
Evidence Based Medicine Regarding Primary carnitine deficiency	Cochrane Collaboration on Primary carnitine deficiency • Bandolier on Primary carnitine deficiency • TRIP on Primary carnitine deficiency
Cost Effectiveness of Primary carnitine deficiency	Cost Effectiveness of Primary carnitine deficiency
Clinical Trials Involving Primary carnitine deficiency	Ongoing Trials on Primary carnitine deficiency at Clinical Trials.gov • Trial results on Primary carnitine deficiency • Clinical Trials on Primary carnitine deficiency at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Primary carnitine deficiency	US National Guidelines Clearinghouse on Primary carnitine deficiency • NICE Guidance on Primary carnitine deficiency • NHS PRODIGY Guidance • FDA on Primary carnitine deficiency • CDC on Primary carnitine deficiency
Textbook Information on Primary carnitine deficiency	Books and Textbook Information on Primary carnitine deficiency
Pharmacology Resources on Primary carnitine deficiency	Dosing of Primary carnitine deficiency • Drug interactions with Primary carnitine deficiency • Side effects of Primary carnitine deficiency • Allergic reactions to Primary carnitine deficiency • Overdose information on Primary carnitine deficiency • Carcinogenicity information on Primary carnitine deficiency • Primary carnitine deficiency in pregnancy • Pharmacokinetics of Primary carnitine deficiency •
Genetics, Pharmacogenomics, and Proteinomics of Primary carnitine deficiency	Genetics of Primary carnitine deficiency • Pharmacogenomics of Primary carnitine deficiency • Proteomics of Primary carnitine deficiency
Newstories on Primary carnitine deficiency	Primary carnitine deficiency in the news • Be alerted to news on Primary carnitine deficiency • News trends on Primary carnitine deficiency
Commentary on Primary carnitine deficiency	Blogs on Primary carnitine deficiency
Patient Resources on Primary carnitine deficiency	Patient resources on Primary carnitine deficiency • Discussion groups on Primary carnitine deficiency • Patient Handouts on Primary carnitine deficiency • Directions to Hospitals Treating Primary carnitine deficiency • Risk calculators and risk factors for Primary carnitine deficiency
Healthcare Provider Resources on Primary carnitine deficiency	Symptoms of Primary carnitine deficiency • Causes & Risk Factors for Primary carnitine deficiency • Diagnostic studies for Primary carnitine deficiency • Treatment of Primary carnitine deficiency
Continuing Medical Education (CME) Programs on Primary carnitine deficiency	CME Programs on Primary carnitine deficiency
International Resources on Primary carnitine deficiency	Primary carnitine deficiency en Espanol • Primary carnitine deficiency en Francais
Business Resources on Primary carnitine deficiency	Primary carnitine deficiency in the Marketplace • Patents on Primary carnitine deficiency
Informatics Resources on Primary carnitine deficiency	List of terms related to Primary carnitine deficiency

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .