THE IMPORTANCE OF CARNITINE AND ITS METABOLISM IN NEWBORN: LITERATURE REVIEW AND CLINICAL CASE

Aim: To analyze the literature on the processes of formation of endogenous and exogenous carnitine, its metabolism and function in the newborn. Material and methods: The literature data and international clinical recommendations for pathological conditions leading to primary and secondary carnitine deficiency have been retrospectively analyzed. A clinical case of a child with suspected systemic carnitine deficiency is presented. Conclusions: Depending on the reasons that led to carnitine deficiency, there are primary and secondary carnitine deficiency. Primary carnitine deficiency is a rare condition that can lead to metabolic decompensation, muscular and cardiac myopathy, and sudden death. Secondary carnitine deficiency can be caused by a genetically determined congenital metabolic defect, insufficient substrate intake, acquired disorder, immaturity of the biochemical pathway in premature infants, renal failure or iatrogenic exposure. Familiarization with the main causes of carnitine deficiency in newborns will more effectively detect and correct the clinical manifestations of this condition.

Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy

Carnitine is necessary for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A carnitine deficiency results in impaired energy production from fatty acids.We reviewed the plasma level of total carnitine, free carnitine, and acylcarnitines in 1270 children with psychomotor retardation, low growth, and weight parameters. Tandem mass spectrometry (MS/MS) was applied. Low free carnitine level in plasma was used as a marker of carnitine deficiency.A total of 102 (8%) children had free carnitine level <19 μmol/L (norm 19–60 μmol/L). As a result of the subsequent investigation, hereditary diseases were diagnosed in 76 (¾) children and out of that 19 had very low free carnitine plasma level (<10 μmol/L). Fanconi syndrome, fat oxidation defects, primary systemic carnitine deficiency, mitochondrial encephalomyopathy, and Noonan syndrome were revealed in these 19 children.Efficacy of levocarnitine treatment in children with very low free carnitine level differs according to pathogenesis of diseases. The highest efficacy was observed in primary systemic carnitine deficiency.

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

Systemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel