Carnitine-acylcarnitine translocase deficiency

Carnitine-acylcarnitine translocase deficiency


DiseaseDisorder infobox
Name = Carnitine-acylcarnitine translocase deficiency
ICD10 =
ICD9 = ICD9|272.8

Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting 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 long-chain fatty acids from being transported into the innermost part of the mitochondria for processing.

Presentation

The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours of life. Seizures, an irregular heartbeat, and breathing problems are often the first signs of this disorder. This disorder may also cause extremely low levels of ketones (products of fat breakdown that are used for energy) and low blood sugar (hypoglycemia). Together, these two signs are called hypoketotic hypoglycemia. Other signs that are often present include ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death.

Pathiophysiology

Mutations in the "SLC25A20" gene lead to the production of a defective version of an enzyme called carnitine-acylcarnitine translocase.

Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be broken down and processed. As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as weakness, hypoglycemia, and an irregular heartbeat. Free long-chain fatty acids or those that are joined with carnitine can affect the electrical properties of cardiac cells causing an irregular heart beat (arrhythmia, which can lead to cardiac arrest). Fatty acids may also build up in tissues and can damage the heart, liver, and muscles, and cause more serious complications.

This condition has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder.

ee also

*Primary carnitine deficiency
*Carnitine palmitoyltransferase I deficiency
*Carnitine palmitoyltransferase II deficiency

External links

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


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • Carnitine-acylcarnitine translocase — protein Name=solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 caption= width= HGNCid=1421 Symbol=SLC25A20 AltSymbols=CACT EntrezGene=788 OMIM=212138 RefSeq=NM 000387 UniProt=O43772 PDB= ECnumber= Chromosome=3 Arm=p… …   Wikipedia

  • Carnitine palmitoyltransferase II deficiency — Classification and external resources Carnitine ICD 9 …   Wikipedia

  • Carnitine — Systematic (IUPAC) name 3 hydroxy 4 (trimethylazaniumyl)butanoate Clinical data AHFS/Drugs.com …   Wikipedia

  • Translocase — is a general term for an enzyme that assists in moving another molecule, usually across a membrane.Translocases are most common secretion system in Gram positive bacteria.Examples include: * ornithine translocase (SLC25A15), associated with… …   Wikipedia

  • carnitine — A trimethylammonium (betaine) derivative of γ amino β hydroxybutyric acid, formed from Nε,Nε,Nε trimethyllysine and from γ butyrobetaine; the l isomer is a thyroid inhibitor found in muscle, liver, and meat extracts; l c. is an acyl carrier with… …   Medical dictionary

  • Inborn error of lipid metabolism — Classification and external resources Several fatty acid molecules ICD 10 E75 …   Wikipedia

  • Inborn errors of lipid metabolism — ICD9|277.85 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D008052 Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid… …   Wikipedia

  • Newborn screening — See also: Apgar score Newborn screening Intervention MeSH D015997 Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but di …   Wikipedia

  • 3-я хромосома человека — Идиограмма 3 й хромосомы человека 3 я хромосома человека  одна из 23 человеческих хромосом, одна из 22 аутосом человека. Хромосома содержит почти 200 млн пар оснований …   Википедия

  • Chromosome 3 (human) — Short and long arms Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”