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The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. [5] Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. [5]
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]
Signs and symptoms of this disorder include low levels of ketones (hypoketosis) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood. [2]
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 ...
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 ]
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 palmitoyltransferase I (CPT1) also known as carnitine acyltransferase I, CPTI, CAT1, CoA:carnitine acyl transferase (CCAT), or palmitoylCoA transferase I, is a mitochondrial enzyme responsible for the formation of acyl carnitines by catalyzing the transfer of the acyl group of a long-chain fatty acyl-CoA from coenzyme A to l-carnitine.
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]