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  2. Fatty-acid metabolism disorder - Wikipedia

    en.wikipedia.org/wiki/Fatty-acid_metabolism_disorder

    Fatty-acid metabolism disorders result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease.

  3. Carnitine palmitoyltransferase I deficiency - Wikipedia

    en.wikipedia.org/wiki/Carnitine_palmitoyl...

    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]

  4. Systemic primary carnitine deficiency - Wikipedia

    en.wikipedia.org/wiki/Systemic_primary_carnitine...

    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]

  5. 3-Methylcrotonyl-CoA carboxylase deficiency - Wikipedia

    en.wikipedia.org/wiki/3-Methylcrotonyl-CoA...

    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]

  6. Carnitine palmitoyltransferase II deficiency - Wikipedia

    en.wikipedia.org/wiki/Carnitine_palmitoyl...

    Laboratory findings: most patients have low total and free carnitine levels and high acylcarnitine:free carnitine ratios. Adult patients often have serum and/or urine screen positive for the presence of myoglobin and serum creatine kinase and transaminase levels 20-400x higher than normal levels during an attack. [21]

  7. Carnitine - Wikipedia

    en.wikipedia.org/wiki/Carnitine

    The form present in the body is l-carnitine, which is also the form present in food. Food sources rich in l-carnitine are animal products, particularly beef and pork. [1] Red meats tend to have higher levels of l-carnitine. [1] [24] Adults eating diverse diets that contain animal products attain about 23–135 mg of carnitine per day.

  8. Carnitine-acylcarnitine translocase deficiency - Wikipedia

    en.wikipedia.org/wiki/Carnitine-acylcarnitine...

    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] Carnitine, a natural substance

  9. Carnitine palmitoyltransferase I - Wikipedia

    en.wikipedia.org/wiki/Carnitine_palmitoyl...

    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.

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