View source for Primary carnitine deficiency

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{{Infobox_Disease |
  Name           = Primary carnitine deficiency |
  Image          = Carnitine structure.png  |
  Caption        = [[Carnitine]] |
  DiseasesDB     = 31103 |
  ICD10          = {{ICD10|E|71|3|e|70}}  |
  ICD9           = {{ICD9|277.81}} |
  ICDO           = |
  OMIM           = 212140 |
  MedlinePlus    = |
  MeshName       = |
  MeshNumber     = |
}}

{{Search infobox}}

{{CMG}}

== Overview ==

'''Primary carnitine deficiency''' is a condition that prevents the body from using [[lipid|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.

== Historical Perspective ==

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]].

== Pathophysiology ==

There is a decrease in the transport function as a result carnitine is lost from the body.  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.

=== Genetics ===

[[Mutations]] in the ''[[SLC22A5]]'' [[gene]] lead to the production of defective carnitine transporters.  This condition is inherited in an [[autosomal recessive]] pattern.

== Differentiating Primary Carnitine Deficiency 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 [[chickenpox]] or [[flu]].  Most cases of [[Reye syndrome]] are associated with the use of [[aspirin]] during these viral infections.

== Epidemiology and Demographics ==

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.

== Risk Factors ==

* [[Infections]]
* [[Fasting]]
* [[Malnutrition]]
* Strenuous physical work

== Natural History, Complications and Prognosis ==

Serious complications such as [[heart failure]], [[liver]] problems, [[coma]], and sudden unexpected death can occur.  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 ==

=== Symptoms ===

* [[Confusion]]
* [[Vomiting]]
* [[Muscle weakness]]

=== Physical Examination ===

Typically, initial signs  of this disorder occur during infancy or early childhood and often include brain function abnormalities

==== Heart ====

* [[Cardiomyopathy]]
==== Neuroloogic ====

* [[Encephalopathy]]

=== Laboratory Findings ===

==== Electrolyte and Biomarker Studies ====

* [[Hypoglycemia]]

== 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.

====Contraindicated medications====

{{MedCondContrAbs

|MedCond = Carnitine deficiency|Cefditoren}}

== References ==
{{reflist|2}}

''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''

{{Endocrine, nutritional and metabolic pathology}}

[[Category:Genetic disorders]]
[[Category:Hepatology]]
[[Category:Inborn errors of metabolism]]
[[Category:Disease]]

[[zh:卡尼丁缺乏症]]

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