Secondary Deficiency

Secondary carnitine deficiency is associated with several inborn errors of metabolism and acquired medical or iatrogenic conditions, such as the following (Evangeliou &

Vlassopoulos 2003):

• genetic defects of metabolism, including methylmalonic aciduria, cytochrome C oxidase deficiency, fatty acyl-CoA dehydrogenase deficiency

• medications — patients taking valproate and the anti-HIV drug azidothymidine are at risk

• dialysis — carnitine depletion in haemodialysis patients is caused by insufficient carnitine synthesis and particularly by loss through the dialytic membranes. Many studies have shown that l-carnitine supplementation leads to improvements in several complications seen in uraemic patients, including cardiac complications, impaired exercise and functional capacities, muscle symptoms, increased symptomatic intradialytic hypotension, and erythropoietin-resistant anaemia, normalising the reduced carnitine palmitoyl transferase activity in red cells (Matera et al 2003)

• liver disease, which impairs the last stage of carnitine synthesis, resulting in deficiencies in cardiac and skeletal muscle

• chronic renal failure and renal tubular disorders, in which excretion of carnitine may be excessive

• intestinal resection

• coeliac disease — a case report exists of a 48-year-old man developing encephalopathy due to carnitine deficiency as a result of coeliac disease (Karakoc et al 2005). In patients with idiopathic dilated cardiomyopathy associated with coeliac disease a gluten-free diet has been shown to increase serum carnitine levels (Curione et al 2005)

• preterm neonates develop carnitine deficiency due to impaired proximal renal tubule carnitine re-absorption and immature carnitine biosynthesis

• hypopituitarism (Martindale 1999)

• adrenal insufficiency (Hendler & Rorvik 2001)

• advanced AIDS (Hendler & Rorvik 2001)

• vitamin C deficiency (Hendler & Rorvik 2001)

• other chronic conditions — diabetes mellitus, heart failure, Alzheimer's disease.

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