Хуудас 1 -аас 109 үр дүн
Patients with cyclic vomiting syndrome suffer from recurring episodes of severe nausea and vomiting. This paper presents 6 patients who responded to 1-carnitine administration. Average time between episodes was 1.7 months before carnitine administration and increased to 1.1 years after carnitine
BACKGROUND
Cyclic vomiting syndrome (CVS), defined by recurrent stereotypical episodes of nausea and vomiting, is a relatively-common disabling and historically difficult-to-treat condition associated with migraine headache and mitochondrial dysfunction. Limited data suggests that the anti-migraine
Genetic deficiency of short-chain acyl-coenzyme A (CoA) dehydrogenase activity was demonstrated in cultured fibroblasts from a 2-yr-old female whose early postnatal life was complicated by poor feeding, emesis, and failure to thrive. She demonstrated progressive skeletal muscle weakness and
A 7 1/2-yr-old girl suffered, since early infancy, severe recurrent myalgia during periodic attacks of fever, vomiting and pharyngitis. Neither myoglobinuria nor exercise-induced muscle pain was present. She was found to have carnitine palmitoyltransferase deficiency (CPTD) in leukocytes,
Recurrent episodes of hypoglycemia, prostration, vomiting, and hepatomegaly were observed in an infant fed a carnitine-free soy formula. The extremely low plasma and urinary carnitine concentrations, elevated plasma free fatty acids, disproportionately low plasma beta hydroxybutyrate, and elevated
A 12-year old boy suffered episodes of vomiting, lethargy, and hypoglycaemia from the age of 1 year. Adhering to a vegetarian diet caused an increase in frequency and severity of the attacks. It was found that he was suffering from systemic carnitine deficiency that responded promptly to treatment
Medication errors are probably more common in neonates than is generally appreciated. In Mexican pediatric hospitals, L-carnitine is mainly used for nutritional support and to treat cardiomyopathy secondary to neonatal asphyxia. Using a longitudinal-retrospective approach we assessed the
Medium-chain acyl-CoA dehydrogenase deficiency is a recently described inborn error of metabolism characterized by episodes of coma and hypoketotic hypoglycaemia in response to prolonged fasting. Secondary carnitine deficiency has been documented in these patients as well as the excretion in the
Carnitine metabolism is reviewed in lipid storage myopathies, diabetes, vomiting sickness of Jamaica, malnutrition, hyperthyrodism, Duchenne dystrophy, and a few other disease states.
We report a 5-month-old boy with recurrent vomiting, lethargy, and poor weight gain. He had profound metabolic acidosis and nonketotic dicarboxylic aciduria. The serum and muscle carnitine levels were significantly low (60% and 10% of the control means, respectively), suggesting that the patient had
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 bowel movements. Oesophageal manometry showed a
Myocardial ischaemia may be defined as a deficiency in cardiac energy supply relative to energy demand. In coronary artery disease (CAD), oxygen supply is limited due to coronary obstruction so energy production is not enough to meet the energy demands for work. Several reports involving about 2500
We report a case with late onset riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency (MADD) characterized by decreased acyl-carnitine profile in serum which is consistent with primary systemic carnitine deficiency (CDSP) while just the contrary to a typical MADD. This patient
The increasing recognition of cyclic vomiting syndrome (CVS) in adults prompted the development of these evidence-based guidelines on the management of CVS in adults, which was sponsored by the American Neurogastroenterology and Motility Society (ANMS) and the Cyclic Vomiting Syndrome Association