We report a Turkish case with a novel SLC22A5 gene mutation presented with a pure cardiac phenotype. During the 14-year follow-up study, cardiac functions were remained within a normal range with oral L-carnitine supplementation. [ncbi.nlm.nih.gov]

Abstract An infant with delayed development and peripheral myopathy, nourished on a soy-based liquid diet deficient in carnitine, had gastrointestinal dysmotility manifested by postprandial vomiting, oral drooling, delayed gastric emptying and infrequent [ncbi.nlm.nih.gov]

A male infant who had been born at 24 weeks' gestation with birth weight 799 g, was fed with an MCT formula containing 76.8% of all kinds of lipids, because of his steatorrhea after the 30th day. [ncbi.nlm.nih.gov]

We present the case of a 35-year-old woman who developed acute mental status changes, asterixis, and diffuse muscle weakness. Her ammonia level was elevated at 276 microg/dL. [ncbi.nlm.nih.gov]

Abstract The case is described of a 36 year-old man who presented with progressive proximal muscle weakness and weight loss. His serum creatine phosphokinase (CPK) levels were markedly elevated. The muscle biopsy showed lipid storage myopathy. [ncbi.nlm.nih.gov]

muscle weakness, and developmental delays. 13 Asymptomatic cases have been reported in a family where a father and his two sons were each found to be homozygous for p.R471H mutation in the SLC22A5 gene and to have deficient carnitine uptake in fibroblasts [nature.com]

Abstract We describe a case of a 35-year-old woman who presented with bilateral leg weakness and encephalopathy while on long-term valproate therapy. She was diagnosed with valproate-induced encephalopathy due to carnitine deficiency. [ncbi.nlm.nih.gov]

hemorrhages in right occipital and left frontal areas. [ncbi.nlm.nih.gov]