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  2. Systemic primary carnitine deficiency - Wikipedia

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

    Some may have carnitine deficiency secondary to another metabolic condition or due to maternal carnitine deficiency. Proper follow-up of newborn screening results for low free carnitine includes studies of the mother to determine whether her carnitine deficiency is due to SPCD or secondary to a metabolic disease or diet. [7]

  3. 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]

  4. Carnitine-acylcarnitine translocase deficiency - Wikipedia

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

    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 ]

  5. Fatty-acid metabolism disorder - Wikipedia

    en.wikipedia.org/wiki/Fatty-acid_metabolism_disorder

    Carnitor - an L-carnitine supplement that has shown to improve the body's metabolism in individuals with low L-carnitine levels. It is only useful for Specific fatty-acid metabolism disease. It is only useful for Specific fatty-acid metabolism disease.

  6. 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]

  7. Methylmalonic acidemias - Wikipedia

    en.wikipedia.org/wiki/Methylmalonic_acidemias

    Treatment for all forms of this condition primarily relies on a low-protein diet, and depending on what variant of the disorder the individual suffers from, various dietary supplements. All variants respond to the levo isomer of carnitine as the improper breakdown of the affected substances results in sufferers developing a carnitine deficiency ...

  8. Carnitine - Wikipedia

    en.wikipedia.org/wiki/Carnitine

    Carnitine interacts with pivalate-conjugated antibiotics such as pivampicillin. Chronic administration of these antibiotics increases the excretion of pivaloyl-carnitine, which can lead to carnitine depletion. [1] Treatment with the anticonvulsants valproic acid, phenobarbital, phenytoin, or carbamazepine significantly reduces blood levels of ...

  9. Beta-ketothiolase deficiency - Wikipedia

    en.wikipedia.org/wiki/Beta-ketothiolase_deficiency

    Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. [ 1 ] [ 2 ] Along with SCOT deficiency , it belongs to a group of disorders called ketone utilisation disorders.

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