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]

• Denial

  If you are going to appeal the denial by the Social Security Administration, think about this. People with a good disability lawyer like the one at disabilitycasereview.com are approved more often than people without an attorney. Do not delay. [disabilitycasereview.com]

• Neck Stiffness

  There was no neck stiffness. On the second day of admission, she was put on mechanical ventilator in view of her worsening sensorium. Her total leukocyte count was high, with mild thrombocytopenia. Her blood glucose level was low (52 mg/dl). [neurologyindia.com]

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]