organic acid/uppköst

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Organic acids in Reye's like syndrome: similarities with Jamaican vomiting sickness.

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Neurological Etiologies and Pathophysiology of Cyclic Vomiting Syndrome.

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Cyclic vomiting syndrome is an idiopathic chronic periodic disorder of childhood which may persist into the adult years. Although cyclic vomiting syndrome is considered a central nervous system disorder, it is often managed by a pediatric gastroenterologist. The practitioner should not assume a

Organic acid disorders.

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Organic acids (OAs) are intermediary products of several amino acid catabolism or degradation via multiple biochemical pathways for energy production. Vitamins or co-factors are often quintessential elements in such degradation pathways and OA metabolism. OAs that result from enzyme defects in these

Identification of 5-hydroxyhexanoic acid in the urine of twin siblings with a Reye's-like syndrome associated with dicarboxylic aciduria and hypoglycaemia and with similarities to Jamaican vomiting sickness.

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Twin male infant siblings who presented in Harrow, UK, with a Reye's-like syndrome associated with profound hypoglycaemia, vomiting, diarrhoea, coma and death in one child, with dicarboxylic aciduria, and similarities to Jamacian vomiting sickness (hypoglycin toxicity) have been shown to excrete

Cyclical vomiting syndrome: Recognition, assessment and management.

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Cyclical vomiting syndrome (CVS) is a functional, debilitating disorder of childhood frequently leading to hospitalization. Affected children usually experience a stereotypical pattern of vomiting though it may vary between different individuals. The vomiting is intense often bilious, and

Approach to the diagnosis and treatment of cyclic vomiting syndrome: a large single-center experience with 106 patients.

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BACKGROUND Cyclic vomiting syndrome is characterized by repeated, stereotypical vomiting episodes. The diagnosis is made by exclusion of other organic diseases, which can lead to extensive testing. It has been suggested that these patients can have mitochondrial dysfunction. The aim of the study was

Maternal inheritance in cyclic vomiting syndrome.

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Cyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a fairly common, disabling, predominately-childhood condition most often associated with migraine and dysautonomic features. Our group recently reported that children with CVS and

Mitochondrial disease and cyclic vomiting syndrome.

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Mutations of mitochondrial DNA are being increasingly recognized as a cause of human disease. Six unrelated children have been evaluated with cyclic vomiting syndrome and a strong maternal family history suggesting a mitochondrial DNA mutation. Manifestations suggestive of migraine were present in

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism.

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Accumulation of organic acids as well as their CoA and carnitine esters in tissues and body fluids is a common finding in organic acidurias, beta-oxidation defects, Reye syndrome, and Jamaican vomiting sickness. Pathomechanistic approaches for these disorders have been often focused on the effect of

Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient.

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Ketoacidosis is a severe metabolic complication mainly reported in diabetic patients. Therapeutic fasting is a millennial worldwide practice, believed to improve a large panel of health conditions, but its efficiency and safety profile have not yet been established. We report here a

An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.

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Mitochondrial acetoacetyl-CoA thiolase deficiency (or beta-ketothiolase deficiency) is a rare metabolic disorder characterized by acute episodes of severe acidosis and ketosis. A case is presented of an 18-month-old boy who presented with vomiting and diarrhoea and was found to be markedly acidotic.

[Methylmalonic acidemia with bilateral MRI high intensities of the globus pallidus].

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We report a patient with methylmalonic acidemia who developed an acute extrapyramidal disorder after severe ketoacidosis. The neurologic findings resulted from bilateral destruction of the globus pallidus. A 10-year-old girl was the term product of an uncomplicated pregnancy and delivery. Poor

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia.

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Deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase has been studied in 11 Saudi infants. The diagnosis was established by the measurement of enzyme activity in lymphocytes, in fibroblasts and, in seven patients, by the gas chromatography/mass spectrometer pattern of excreted organic acids in the

Use of central venous saturation monitoring in a patient with pediatric cardiac beriberi.

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The patient was a 1-year-and-4-mo-old boy. He had drunk about 1 L of an isotonic drink for infants daily since about 10 mo after birth. He was examined by a local doctor due to anorexia and vomiting, found to have cardiomegaly, and transported to our hospital with suspected myocarditis. After

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

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A family is described in which the father and three (and probably all four) of his children had a decreased capacity for the oxidation of medium-chain fatty acids. One of the children suddenly died at the age of 16 months following an episode of a rapidly deteriorating Reye syndrome-like illness

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