Serum Carnitine Level in Phenylketonuric Children under Dietary Control in Greece

Abstract

Although total, free and esterified carnitine blood levels were found to be low (p less than 0.001) in phenylketonuric patients under dietary treatment compared to controls, no clinical signs of carnitine deficiency were noticed. Exclusion from the PKU diet of nutrients rich in carnitine has been suggested. Supplementation of the diets with carnitine or preferably enrichment of the PKU formulas with carnitine will rectify the restriction of extrinsic carnitine in PKU dietary treatment.

l-Carnitine Blood Levels and Oxidative Stress in Treated Phenylketonuric Patients

“…Graphs show the Pearson correlation coefficient and probabilities Cell Mol Neurobiol (2009) 29:211-218 215 phenylketonuric patients, and thereafter investigated the relationship between serum L-carnitine deficiency and the oxidative stress process observed. We first observed that serum L-carnitine levels were significantly reduced in well-treated PKU patients with normal plasma Phe levels, but not in patients with poor compliance to the diet (with high Phe levels), reinforcing previous findings of other investigators (Schulpis et al 1990;Vilaseca et al 1993). Also, a positive correlation between serum Phe levels and serum L-carnitine levels was observed.…”

“…This diet is mainly made up essentially of vegetables and fruits (poor in Phe) and provides the minimal amounts of animal products appropriate for normal development growth, while keeping plasma Phe levels within normal (Giovanini et al 2007). Since approximately 75% of L-carnitine content in human body is derived from the diet mainly from products of animal origin, PKU patients under dietary treatment are potentially prone to develop L-carnitine deficiency (Schulpis et al 1990;Vilaseca et al 1993). Moreover, some studies have demonstrated that special restricted diets may lead to a decrease of the antioxidant status in some inborn errors of metabolism (Artuch et al 2004;van Backel et al 2000).…”

“…Primary and secondary L-carnitine deficiencies have been described, the latter being caused by genetically determined metabolic errors, acquired diseases, and iatrogenic factors (Pons and De Vivo 1995). Since the main dietary sources of L-carnitine are milk and red meat, secondary L-carnitine deficiency has been described in phenylketonuric patients, who are submitted to a protein-restricted diet (Schulpis et al 1990), and inadequate iron availability has been suggested as its possible cause (Böhles et al 1991).…”

Oxidative Stress in Phenylketonuria: What is the Evidence?

“…Besides acting in the bioenergetic process, many studies have reported antioxidant, antiradical, and antiperoxidative effects for L-carnitine due to different mechanisms (Ferrari et al 1988;Bertelli et al 1994;Gülçin et al 2006). Since the main dietary sources of L-carnitine are milk and red meat, secondary L-carnitine deficiency may be a consequence of the protein-restricted diet (Schulpis et al 1990). Therefore, it was also postulated that supplementation of this compound may be considered as an adjuvant therapy for PKU (Sitta et al 2009b).…”

Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia

“…The restriction of protein-rich foods in patients with organic acidaemias involves the risk of a concomitant restriction in the intake of important nutrients such as vitamins, minerals, Arachidonic acid 6.3 (2.9−9) 7.0 (4.8−9.4) 7.6 (6.5−10.0) 5.6 (2.9−9.7) 7.35 ( (Rottoli et al 1985;Sanjurjo et al 1994;Schulpis et al 1990). In addition, and due to enzymatic competition, a diet with a high proportion of n -6 fatty acids may secondarily affect the status of the n -3 fatty acid family.…”