Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To date, seven inborn errors of mitochondrial fatty acid oxidation have been identified. A total of about 100 patients in the world have been reported. Clinically the beta-oxidation defects are more often characterized by episodic hypoglycaemia leading to a coma mimicking Reye's syndrome. The hypoglycaemia is non-ketotic since the synthesis of ketone bodies is deficient. Periods of decompensation occur when carbohydrate supply is poor, e.g. prolonged fasting, vomiting, or increased caloric requirements, as and when lipid stores are used. Defects in beta-oxidation have also been reported to be one cause of sudden infant death syndrome. The diagnosis of these inborn errors is by biochemical investigation since where symptoms suggest such a defect, the precise aetiology cannot be assessed. The biochemical diagnosis is based firstly on identification of abnormal plasma and of urinary metabolites during acute attacks. Derivatives of the omega-oxidation and omega-1-oxidation of medium chain fatty acids have been identified, as well as acylglycine and acylcarnitine conjugates. These metabolites are nearly always absent when patients are in good clinical condition. Secondly, the diagnosis must be based on the identification of the enzymatic defects: this involves global assays which allow a localization of the 'level' of the defect (i.e. the oxidation of long, medium or short chain fatty acids) and specific measurement of enzyme activities (acyl-CoA dehydrogenases and electron carriers: ETF and ETF-DH). The diagnosis of these disorders is of prime importance because of the severity of the clinical symptoms. These can be prevented, in some cases, by an appropriate diet (a high carbohydrate, low fat diet, sometimes supplemented with L-carnitine). In other cases, genetic counselling can be offered.
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PMID:The inborn errors of mitochondrial fatty acid oxidation. 311 38

A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described. Since birth he developed vomiting, hypothermia, lethargy, irritability, hypoglycemia and severe metabolic acidosis. During admission a progressive deterioration was observed. Despite different attempted therapies patient died at 4 1/2 months of age. High levels of plasma and urine lactate and pyruvate were detected. Enzymatic studies in cultures skin fibroblasts and postmortem tissues showed a severe deficiency of pyruvate carboxylase.
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PMID:[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency]. 314 24

Between 1982 and 1987 27 Nissen's fundoplications were carried out in our institution. Postoperatively 7 infants showed a typical dumping syndrome. The symptoms were irritability, pallor, sweating, tachycardia, lethargy, diarrhoea and vomiting. In all cases an absolute refusal of feeding was observed. The diagnosis was confirmed by a typical early postprandial hyperglycaemia with hyperinsulinaemia leading to a reactive hypoglycaemia. Additionally, we were able to demonstrate an increased HbA1c as an expression of recurrent hyperglycaemias in 3 infants. In 6 infants the dumping syndrome was of short duration and the symptoms disappeared after application of a so-called dumping diet. In this diet the easily resorbable carbohydrates are replaced by uncooked starch. But in one case we were forced to use continuous enteral nutrition because of persistence of the symptoms 1 year after the Nissen fundoplication. Complete refusal of feeding is an early symptom of the dumping syndrome. If this symptom is observed after a Nissen's fundoplication, a dumping syndrome must be excluded.
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PMID:[Diagnosis and therapy of dumping syndrome following Nissen fundoplication with reference to pathogenetic aspects]. 314 86

Five cases of acute fatty liver of pregnancy are described. These are the only recognized cases of this disorder occurring in a 2 year period in Western Australia. Clinical and laboratory features are presented. There was no maternal death. Of the six babies, there were three intrauterine deaths, including the only set of twins. All the babies were male. Vomiting in the third trimester was the chief presenting feature in all cases, often accompanied by a systemic illness with malaise and tiredness. Extreme polydipsia was noted as a prominent symptom in all cases. The combination of moderately abnormal liver function tests, extreme leucocytosis with other blood film abnormalities, hypoglycaemia, impaired renal function, coagulopathy and gross elevation of uric acid level is regarded as highly suggestive of the diagnosis. Features of a preeclamptic illness were present in several cases. Three of the patients have since had uneventful pregnancies. The constellation of clinical and laboratory features is sufficiently characteristic to allow accurate clinical diagnosis in most cases of this disorder. The chances of both maternal and fetal survival are enhanced by early diagnosis allowing intervention in the form of prompt delivery of the infant.
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PMID:Acute fatty liver of pregnancy: clinical features and diagnosis. 321 85

Medico-legal investigation into causes of unexpected death of five persons who suffered from eating disorders did not give distinct pathoanatomical explanations. The analysis disclosed a number of risk factors whose interplay may have resulted in a circulatory catastrophy. These factors were of organisational and ideological character: simultaneous treatment at different departments, lack of contact with psychiatrists, or unclear criteria for admission to hospital; or somatic: circulatory and electrocardiographic S-T and T wave abnormalities, hypopotassemia and hypoglycemia, as well as anergy of the emaciated patient which may have led to symptoms of bronchopneumonia being overlooked. Morphological investigation revealed heart atrophy as well as recent lesions such as haemorrhages, fragmentation and contraction bands of the myofibres. In two extremely emaciated patients there was a disproportion between the size of the mitral valves and the atrophic ventricular wall, an appearance similar to "floppy valves". In one instance an erroneously inserted gastric tube contributed to vomiting, hypopotassemia and sudden death.
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PMID:Unexpected death in patients suffering from eating disorders. A medico-legal study. 346 90

Thirty experimental and fifteen control Wistar rats were studied to determine whether hypoglycin A influences insulin levels in the body to contribute to the state of hypoglycemia usually observed in Jamaican vomiting sickness, a condition arising after ingestion of unripe ackees. This fruit also grows in other Caribbean islands, as well as North and Central America. Hypoglycin A is one of the toxic compounds found in unripe ackees and is capable of inducing hypoglycemia. A fall in blood glucose occurred after administration of hypoglycin A. The lowest level of 42.60 +/- 4.84 mg/dl was attained 3 hr after administration of the drug. This alteration of blood glucose from the fasting level of 80.31 +/- 5.20 mg/dl was significant (P less than 0.01). The blood glucose level in the control rats showed no significant change from the fasting level. The insulin level in portal and peripheral blood showed no significant change. Results showed that, although hypoglycin A induced severe hypoglycemia after intravenous application, there was no significant change in insulin levels. This observation suggests that hypoglycin A has a mechanism of action other than an alteration in insulin levels to induce hypoglycemia.
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PMID:Effect of hypoglycin A on insulin release. 354 29

The response of plasma growth hormone and cortisol to the intramuscular injection of 1 mg glucagon was used to assess anterior pituitary function in a group of 97 normal subjects (23 men, 74 women). Ninety-three subjects (96%) responded with a peak GH of at least 8 ng/mL, and 89 (92%) had either a peak cortisol of at least 500 nmol/L (18 micrograms/dL) or a maximal increment in plasma cortisol of at least 250 nmol/L (9 micrograms/dL) above the baseline. In 12 subjects, a second test showed that the responses were reproducible. A greater proportion of subjects over the age of 50 failed to achieve a peak GH of 10 ng/mL (7 of 20, 35%) compared to those who were either under 30 (1 of 37, 2.7%) or between 30 and 50 (4 of 40, 10%) (chi 2 = 12.85, P less than .005). GH responses were not affected by sex or elevation of the basal level of GH. In contrast, cortisol responses were smaller in men and in individuals with high basal cortisol levels but were not affected by age. Mild nausea in approximately 30% of subjects (29 of 97), and transient vomiting and retching in approximately 10% (10 of 97) were the only side effects that were noted. Glucagon is therefore a safe and reliable alternative to insulin-induced hypoglycemia for the assessment of both somatotrophic and corticotrophic function.
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PMID:Intramuscular glucagon as a provocative stimulus for the assessment of pituitary function: growth hormone and cortisol responses. 360 Feb 80

A second child with a more severe deficiency of malonyl CoA decarboxylase is described. He is mildly mentally retarded and presented with vomiting, a seizure, hypoglycaemia and mild metabolic acidosis during a urinary tract infection. The urine contained increased amounts of malonic, methylmalonic, succinic, adipic, glutaric and suberic acids. Mitochondrial malonyl CoA decarboxylase activity in cultured fibroblast extracts was 4% of the mean control value. A high fat, low carbohydrate diet led to symptomatic hypoglycaemia, a moderate metabolic acidosis and excretion in the urine of large amounts of the same organic acids and 3-hydroxybutyrate. Only relatively small quantities of malonic, methylmalonic and succinic acid were excreted in the urine when the boy was fed an isocaloric low fat, high carbohydrate diet. Acute fat and lysine loads led to increased excretion of malonic acid in the urine without affecting the excretion of the other organic acids. Experience with this patient suggests that malonyl CoA decarboxylase serves an important function in the mitochondrion by preventing accumulation of malonyl CoA. The importance of the enzyme is best seen when fat is the main metabolic fuel. The mechanisms by which malonyl CoA produces its complex metabolic effects remain to be elucidated.
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PMID:Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. 370 68

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 with hypoketotic hypoglycemia and dicarboxylic aciduria, but without any previous alarming symptoms. The eldest sibling had died at the age of 19 months under similar conditions. The other family members had always been healthy. On fasting, all affected family members accumulated in their plasma the medium-chain fatty acids octanoic, decanoic, and cis-4-decenoic acids. Their urinary organic acid excretion profile could be characterized as "dicarboxylic aciduria." A deficiency of medium-chain acyl-coenzyme A dehydrogenase was demonstrated in a postmortem liver sample of the index patient. Cultured fibroblasts from the father and the two healthy children had a decreased rate of [14C]octanoate oxidation. It is suggested that a deficiency of medium-chain acyl-coenzyme A dehydrogenase may lead to a life-threatening illness when other complicating factors such as diarrhea and vomiting result in an abnormal depletion of the body's glycogen stores. Careful monitoring of at-risk patients during a minor illness is necessary.
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PMID:Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. 378 30

Acute hepatic failure is characterized by a sudden catastrophic compromise of hepatic failure that causes clinical signs such as anorexia, depression, vomiting, diarrhea, icterus, and encephalopathy. Injurious hepatotoxins, drugs, infectious agents, or metabolic disturbances can cause acute hepatic failure; however, in many cases, the inciting cause is not determined. Treatment is aimed at controlling complications such as fluid-electrolyte imbalances, hepatic encephalopathy, hypoglycemia, bleeding diathesis, gastric ulcer, sepsis, and endotoxemia, in order to provide time for liver regeneration and recovery.
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PMID:Acute hepatic failure. 387 99


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