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. Figure 1: Structure of a Lipid. ... Categories: Amino acids | Biochemistry stubs ...

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, ] 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. Encephalopathy is a container term for various conditions affecting the brain. ... Hypoglycemia is a medical term referring to a pathologic state produced and usually defined by a lower than normal amount of sugar (glucose) in the blood. ... The liver is an organ in vertebrates, including humans. ... In medicine, a coma (from the Greek koma, meaning deep sleep) is a profound state of unconsciousness, which may result from a variety of conditions including intoxication (drug, alcohol or toxins), metabolic abnormalities (hypoglycemia, hyperglycemia, ketoacidosis, etc. ...

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. A very old bottle of Aspirin Aspirin or acetylsalicylic acid is a drug in the family of salicylates, often used as an analgesic (against minor pains and aches), antipyretic (against fever), and anti-inflammatory. ...

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.

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. This article is about mutation in biology, for other meanings see: mutation (disambiguation). ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...

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