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Carnitine deficiency has been extensively studied, although most commonly as a secondary finding to other metabolic conditions. [5] The first case of SPCD was reported in the 1980s, in a child with fasting hypoketotic hypoglycemia that resolved after treatment with carnitine supplementation.
Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]
These same low levels have been associated with primary hypersomnia in general in mouse studies. "Mice with systemic carnitine deficiency exhibit a higher frequency of fragmented wakefulness and rapid eye movement (REM) sleep, and reduced locomotor activity." Administration of acetyl-L-carnitine was shown to improve these symptoms in mice. [70]
Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance. 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. [ 1 ]
SLC22A5 is a membrane transport protein associated with primary carnitine deficiency.This protein is involved in the active cellular uptake of carnitine.It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine.
The operation is a common procedure but in the most extreme cases, children with severe OSA requires special precautions before, surgery (see "Surgery and obstructive sleep apnea syndrome" below). In some countries, a milder surgical procedure called tonsillotomy is used to remove the protruding tonsillar tissue, a method associated with less ...
Carnitine O-acetyltransferase also called carnitine acetyltransferase (CRAT, or CAT) [5] (EC 2.3.1.7) is an enzyme that encoded by the CRAT gene that catalyzes the chemical reaction. acetyl-CoA + carnitine CoA + acetylcarnitine. where the acetyl group displaces the hydrogen atom in the central hydroxyl group of carnitine.
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three ...