PURPOSE Previously we demonstrated expression and localization of carnitine/organic cation transporters, OCTN1 and OCTN2, in human corneal and conjunctival epithelia. The present study aimed to examine the characteristics of L-carnitine transporters in cultured human limbal corneal (HCLE) and conjunctival epithelial (HCjE) cells. METHODS Time-course, Na(+)-dependence, kinetics, energy- and pH...

We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on geneti...

INTRODUCTION Evaluation of growth hormone (GH) in short thalassaemic patients and effect of L-carnitine therapy in those with hormone deficiency. MATERIAL AND METHODS The study included 30 β-thalassaemic patients aged 13.8 ±1.7 years and 30 children with constitutional short stature as controls. Anthropometric measurements (basal and after 6 months), thyroid profile, insulin-like growth facto...

Background: Type 1 diabetes mellitus is reportedly characterized by deficiencies of plasma total and free carnitine. Several inherited defects in fatty acid oxidation are associated with carnitine deficiency and with recurrent hypoglycemia. Hypoglycemia continues to be the major limiting factor in the management of type 1 diabetes. Herein, we sought to identify a subset of patients with abnorma...

OBJECTIVE We sought to evaluate clinical correlates of low serum carnitine levels in hospitalized psychiatric patients. METHODS We retrospectively reviewed the charts of 40 psychiatric inpatients identified to have low serum carnitine levels. RESULTS Cognitive impairment was present in 38 (95%) cases, frequently accompanied by imbalance, agitation and extrapyramidal symptoms. Valproate ther...

We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6-N-trimethyllysine dioxygenase. Deletion of exon 2 of TMLHE causes enzyme deficiency, resulting in increased substrate concentration (6-N-trimethyllysine) and decreased product levels (...

Guidelines in the diagnosis and current dietary treatment of long-chain fatty acid (LCFA) defects have been collected according to evidence-based medicine. Since the identification of carnitine and carnitine palmitoyltransferase deficiency more than 25 years ago, nearly every enzymatic step required for beta-oxidation has been associated with an inherited metabolic disorder. These disorders eff...