The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure. [ncbi.nlm.nih.gov]

• Turkish

  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]

• Delayed Gastric Emptying

  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]

• Steatorrhea

  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]

• Asterixis

  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]

• Proximal Muscle Weakness

  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]

• Bilateral Leg Weakness

  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]

• Intracranial Hemorrhage

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

The question remains of whether the male predominance is due to sex-related differences in exercise activities, an X-chromosomal modifier gene, or hormonal factors such as estrogen that seem to be a regulator of CPT. 17, 18 Diagnostic workup of exercise-induced [jamanetwork.com]

In the thyroid gland, I-concentration is more progressive, also in the reservoir (from 1% after 30 minutes, to 5.8% after 48 hours, of the total injected dose.[18] The diagnostic workup of a suspected iodine deficiency includes signs and symptoms as well [en.wikipedia.org]

Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis. [genico.ch]

Carnitine treatment of inborn errors of metabolism is a safe and integral part of the treatment regime for these disorders. [ncbi.nlm.nih.gov]

The prognosis of PCD patients is good after early treatment. [ncbi.nlm.nih.gov]

Prognosis The prognosis is extremely good as long as oral carnitine supplementation is maintained. The documents contained in this web site are presented for information purposes only. [orpha.net]

Abstract Dilated cardiomyopathy is characterized by a dilated and poorly functioning left ventricle and can result from several different etiologies including ischemic, infectious, metabolic, toxins, autoimmune processes or nutritional deficiencies. [ncbi.nlm.nih.gov]

In all 21 subjects with several different etiologies for the Fanconi syndrome, the mean fractional excretion of free carnitine (33%) as well as acyl carnitine (26%) greatly exceeded normal values (3 and 5%, respectively). [jci.org]

To compare symptom outcomes before and after supplementation, patients completed validated measures of fatigue (Brief Fatigue Inventory [BFI]), depressed mood (Center for Epidemiologic Studies Depression Scale [CES-D]), quality of sleep (Epworth Sleeplessness [ncbi.nlm.nih.gov]

Summary Epidemiology The exact prevalence is unknown and varies depending on ethnicity. The estimated prevalence is 1/20,000 - 1/70,000 newborns in Europe and the USA while the estimated incidence in Japan is 1/40,000 births. [orpha.net]

Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999 Nov-Dec;1(7):332-9. [ghr.nlm.nih.gov]

The pathophysiology of EED remains poorly understood. METHODS: We measured serum metabolites using liquid chromatography-tandem mass spectrometry in 400 children, aged 12-59months, from rural Malawi. [ncbi.nlm.nih.gov]

Carnitine transport: pathophysiology and metabolism of known molecular defects. J Inherit Metab Dis. 2003;26(2-3):147-69. Review. Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N. [ghr.nlm.nih.gov]

In the absence of such recommendations, a rational approach must be based on an understanding of the normal physiology of fasting in children of different ages and the pathophysiology associated with the child's particular disorder. [doi.org]