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]

• 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]

• 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]

  Cardiomyopathy, skeletal muscle weakness, and mildly elevated creatine kinase are occasionally seen associated with metabolic decompensation. 8, 9 Progressive cardiomyopathy with or without muscle weakness and hypotonia is the presenting sign in the other [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]

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]

Oral carnitine treatment is required for lifelong treatment of the disease. Prognosis The prognosis is extremely good as long as oral carnitine supplementation is maintained. [orpha.net]

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]

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

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]

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]

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]

The pathophysiology of MCAD deficiency results from the inability to carry out the first step of beta-oxidation. [emedicine.com]

Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food (fasting). [mda.org.au]