Systemic primary carnitine deficiency (SPCD)[1] is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. Carnitine is an important amino acid for fatty acid metabolism.[4] When carnitine cannot be transported into tissues, fatty acid oxidation is impaired, leading to a variety of symptoms such as chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction. The specific transporter involved with SPCD is OCTN2, coded for by the SLC22A5 gene located on chromosome 5. SPCD is inherited in an autosomal recessive manner, with mutated alleles coming from both parents.
Acute episodes due to SPCD are often preceded by metabolic stress such as extended fasting, infections or vomiting. Cardiomyopathy can develop in the absence of an acute episode, and can result in death. SPCD leads to increased carnitine excretion in the urine and low levels in plasma. In most locations with expanded newborn screening, SPCD can be identified and treated shortly after birth. Treatment with high doses of carnitine supplementation is effective, but needs to be rigorously maintained for life.
Systemicprimarycarnitinedeficiency (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine...
transport protein associated with primarycarnitinedeficiency. This protein is involved in the active cellular uptake of carnitine. It acts a symporter, moving...
Vitamin B12 deficiency, also known as cobalamin deficiency, is the medical condition in which the blood and tissue have a lower than normal level of vitamin...
choline intake has been hypothetized to increase these risks in addition to carnitine, which also is formed into TMA and TMAO by gut bacteria. However, choline...
occur with valproic acid overdose, and is due to a deficiency in carnitine. Its treatment is carnitine replacement. Urinary tract infection caused by urease-producing...
Gerbitz KD, Kilimann MW (August 1999). "Carnitine transporter OCTN2 mutations in systemicprimarycarnitinedeficiency: a novel Arg169Gln mutation and a recurrent...
Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase...
levels have been associated with primary hypersomnia in general in mouse studies. "Mice with systemiccarnitinedeficiency exhibit a higher frequency of...
levels have been associated with primary hypersomnia in general in mouse studies. "Mice with systemiccarnitinedeficiency exhibit a higher frequency of...
2018). "A review of micronutrients in sepsis: the role of thiamine, L-carnitine, vitamin C, selenium and vitamin D". Nutrition Research Reviews. 31 (2):...
metabolism is further impaired as carnitine is used to detoxify the buildup of glutaric acid, causing secondary carnitinedeficiency. Although MADD affects multiple...
Certain vitamin-like compounds that are recommended in the diet, such as carnitine, are thought useful for survival and health, but these are not "essential"...
coenzyme A derivatives, fatty acid thioester ACP derivatives and fatty acid carnitines. The fatty amides include N-acyl ethanolamines, such as the cannabinoid...
thymidine triphosphate, oxidative stress, reduction of intracellular L-carnitine or apoptosis of the muscle cells. Anemia due to AZT was successfully treated...
that can be shunted into lipogenesis and that allosterically inhibits of carnitine palmitoyltransferase I (CPT1), a mitochondrial enzyme necessary for the...
Acquisition Method) and PRESS (Point Resolved Spectroscopy) are the two primary pulse sequence techniques used. In terms of advantages, STEAM is best for...