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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.
L-Carnitine, acetyl-l-carnitine, and propionyl-l-carnitine are available in dietary supplement pills or powders, with a daily amount of 0.5 to 1 g considered to be safe. [1] [3] It is also a drug approved by the Food and Drug Administration to treat primary and certain secondary carnitine-deficiency syndromes secondary to inherited diseases. [1 ...
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 ]
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 Transport Defect; Carnitine-acylcarnitine translocase deficiency (CACT) Carnitine Palmitoyl Transferase I & II ( CPT I deficiency & CPT II deficiency) 2,4 Dienoyl-CoA Reductase Deficiency; Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (GA-II/MADD) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG deficiency)
Such polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. [5] Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency, which can lead to heart failure. [6]
Alpha 1-antitrypsin deficiency; Biotinidase deficiency; Hereditary angioedema; 277.7 Dysmetabolic syndrome X. Metabolic syndrome; 277.8 Other specified disorders of metabolism. 277.81 Primary carnitine deficiency; 277.82 Carnitine deficiency due to inborn errors of metabolism; 277.83 Iatrogenic carnitine deficiency; 277.84 Other secondary ...
Since the pioneering studies conducted by its founder Claudio Cavazza, Sigma-Tau has always proved to be a groundbreaker in the discovery of drugs for rare and orphan diseases: for instance, Carnitine for the treatment of primary or secondary “specific deficiencies” was the second product ever to obtain the designation as “orphan drug ...
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