Carnitine Deficiency

A deficiency of carnitine is caused by the insufficient supply of carnitine or the inability of the organism to metabolize the amino acid. Carnitine deficiency causes a number of heterogeneous disorders. Due to a weakening of the muscular metabolism myopathy, hypoglycemia or cardiomyopathy occur. Infants have a hypoglycemic, hypoketotic encephalopathy usually. For the treatment of deficiency state l-carnitine is usually fed nutritionally.

(See also Overview of malnutrition.)

A deficiency of carnitine is caused by the insufficient supply of carnitine or the inability of the organism to metabolize the amino acid. Carnitine deficiency causes a number of heterogeneous disorders. Due to a weakening of the muscular metabolism myopathy, hypoglycemia or cardiomyopathy occur. Infants have a hypoglycemic, hypoketotic encephalopathy usually. For the treatment of deficiency state l-carnitine is usually fed nutritionally. (See also Overview of malnutrition.) Carnitine (CoA) is required for the transport of acyl-coenzyme A esters of long chain fatty acids into the Myozytenmitochondrien where they are oxidized for energy. Carnitine is in food, v. a. animal products available or is synthesized by endogenous synthesis. Among the causes of carnitine deficiency include: Inadequate intake (. Eg by dieting, lack of access or long-term TPN) inability to metabolize carnitine, because (of enzyme deficiencies such as lack of carnitine palmitoyl transferase, methylmalonic, propionic acidemia. isovaleric) Decreased endogenous carnitine synthesis is released from the renal tubules due to severe liver disease Excessive carnitine loss in diarrhea, diuresis or hemodialysis Hereditary disease in which carnitine Increased carnitine requirement for ketosis or when demand is high for fat burning (eg., during a critical illness such as sepsis or severe burns; after major surgery of the gastrointestinal tract) Decreased carnitine levels in the muscles due to mitochondrial impairment (eg due to the use of Židov. udin) use of valproate The deficiency can show systemic or myopathic and mainly relate to the muscles. Symptoms nature of the symptoms and the age at which they occur are dependent on the particular cause. Due to a carnitine deficiency occur muscle necrosis, myoglobinuria, Fettspeichermyopathie, hypoglycemia, fatty liver and hyperammonemia on by muscle pain, fatigue, confusion and cardiomyopathy. Diagnosis In newborns: Mass In adults: Acylcarnitinspiegel In newborns, a carnitine palmitoyltransferase deficiency with mass spectrometry is diagnosed for blood screening. Prenatal diagnosis is possible using villous cells from the Fruchwasser. The positive diagnosis in adults is based on a determination of the Acylcarnitinspiegel in serum, urine and tissues (muscle and liver for systemic deficiency in muscles only for the myopathic deficiency). Therapy avoiding fasting and strenuous exercise Dietary intervention based on the cause of the disease a carnitine deficiency, with the food in an increased demand, massive losses, a reduced synthesis or (sometimes) enzyme deficiencies is well founded, can in insufficient uptake over the Regulation fix of l-carnitine in an oral dose of 25 mg / kg every 6 h. All patients should avoid fasting and strenuous exercise. The consumption of uncooked cornstarch at bedtime prevents morning hypoglycemia. Some patients may require supplementation with medium chain triglycerides and essential fatty acids (eg. As linoleic acid, linolenic acid). Patients with a disorder of fatty acid oxidation should eat carbohydrate-rich and low in fat.

Health Life Media Team

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