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)

In order to diagnose hereditary fructose intolerance up to now, there were only the dangerous fructose-load and the biochemical evidence of this metabolic defect from biopsies of liver, intestine or kidney. Since there are no screening tests nor tests for heterocygote carriers or prenatal diagnostic procedures, we tested a simple method to determine serum activities of the two enzymes concerned in this defect (fructose-1-phosphate aldolase, fructose-1,6-diphosphate aldolase). Even in completely healthy children we could measure both activities in a good range. Children with known liver lesion caused other than HFI had significantly increased activities of both enzymes. In 4 cases with HFI we could not measure any activity of fructose-1-phosphate aldolase and a decreased activity of fructose-1,6-di-phosphate aldolase in serum, despite an apparently damaged liver. We propose to define those two serum activities in any case of an obscure liver lesion, frequent vomiting and postprandial hypoglycemia in early childhood, in order to exclude HFI or to demonstrate its possible presence.
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PMID:[Diagnostic procedures in hereditary fructose intolerance (author's transl)]. 90 45

Lysinuric protein intolerance (LPI), an autosomal recessive defect of diamino acid transport, is characterized chemically by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. Our 20 patients thrived during breast-feeding, but ingestion of cow's milk caused diarrhea and vomiting. When able to select their diet, they rejected all protein-rich foods. They were short staturated and had weak atrophic muscles, osteoporosis, hepatomegaly and often splenomegaly. Four patients were mentally retarded. Fifteen patients had leukocyte counts below 4,000/mm3, and 17 patients had platelet counts below 150,000/mm3. Serum lactate dehydrogenase activity was constantly increased, and transaminase and aldolase activities were often increased. In the infants' livers, changes were only revealed by electron microscopy: increased and vesicular smooth endoplasmic reticulum, and abundance of glycogen particles in the hepatocytes. In the older patients, light microscopy demonstrated clearly limited areas where hepatocytes had large pale cytoplasm and small pyknotic nuclei. The diamino acids lysine, arginine and ornithine had plasma concentrations only one-third to one-half the normal mean; the renal clearances were clearly increased. Oral diamino acid loading tests suggested impaired intestinal absorption. Urea is built in the liver through transformation of ornithine to arginine, and cleavage of arginine to ornithine and urea. The addition of ornithine to an intravenous I-alanine loading prevented the hyperammonemia and normalized the urea production. Therefore, the diet has been supplemented with arginine, and more protein has been added. This therapy has lead to a remarkable catch-up growth in some patients. The pathophysiology of LPI is explained. Because of defective intestinal absorption and incrased renal loss, the diamino acids have a low plasma concentration. Their transport from plasma to hepatocytes is also impaired, and the liver becomes deficient in ornithine. This retards the urea cycle, and leads to postprandial hyperammonemia and protein aversion. The presence of the transport defect in the hepatocytes distinguishes LPI from other hyperdibasicaminoacidurias.
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PMID:Lysinuric protein intolerance. 115 80

Four patients had trichinosis after consuming raw home-butchered pork. The patients had fever, myalgias, periorbital edema, and conjunctivitis. All of the patients had nausea, vomiting, or diarrhea (corresponding to the intestinal phase of the infection) seven to ten days before the onset of fever and myalgias. Laboratory findings included eosinophilia, elevated serum CPK and aldolase values, and seroconversion of Trichinella serology one month after onset of myalgias. The patients were treated with mebendazole and prednisone and recovered uneventfully.
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PMID:Common-source outbreak of trichinosis associated with eating raw home-butchered pork. 304 86

We observed eight infants with hereditary fructose intolerance which had been diagnosed by the fructose tolerance test and an aldolase assay on biopsied liver. None of these had been diagnosed before their admission to our department. The most frequent symptoms were vomiting and failure to thrive. All the patients had hepatomegaly. Laboratory findings were indicative of disturbed hepatic function. Hypoglycemia was found in only 3 out of 8 patients. The course was lethal in 2 patients; the 6 survivors are doing well following a fructose-free diet. The importance of practising paediatricians having the detailed nutritional history of the patient and precise knowledge of infant food formulae is stressed. The danger of using fructose continuing solutions for infusion therapy is pointed out. We also report a case of F-1,6-diphosphatase deficiency.
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PMID:[Clinical heterogeneity in fructose intolerance]. 717 Jan 90

A 22-year-old man developed transient unconsciousness during running. He developed fever, nausea, vomiting, diarrhea and general fatigue. Next day, he was admitted to National Hospital Nayoro because of high serum CK level of 13,610U/l. Biochemical analyses revealed elevated serum myoglobin, increased CK-MM isozyme, aldolase and lactate dehydrogenase, increased serum osmolality, increased uric acid, and decreased serum potassium levels. Therefore, he was diagnosed as having rhabdomyolysis. In addition, serum CK-MB isozyme, cardiac myosin light chain I and troponin T were increased, suggesting the damage of cardiac muscle. Electrocardiogram showed elevated ST segment and inverted T on V2-4, which were not observed previously. He had no preceding infectious disease, drug ingestion or an underlying metabolic disorder. The rhabdomyolysis may be precipitated by the superimposition of dehydration and loss of potassium due to diarrhea and vomiting. The myocardial injury, probably produced by transient myocardial ischemia, should be paid attention in case of rhabdomyolysis.
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PMID:[A case of rhabdomyolysis complicated with myocardial injury]. 856 47

Rhabdomyolysis (R) is a complex condition involving the rapid dissolution of damaged or injured skeletal muscle. This leads to the direct release of intracellular components, including myoglobin, creatine kinase, aldolase, and lactate dehydrogenase, as well as electrolytes, into the bloodstream and extracellular space. Clinically, R shows a triad of symptoms: myalgia, limb weakness, and myoglobinuria without hematuria, while myoglobin has been recognized as playing a part in the development of acute kidney injury. Coturnism is a relatively rare disease, mostly found in the European countries bordering the Mediterranean Sea, characterized by acute R. It follows the consumption of Coturnix coturnix, a species of quails common in Europe, that have ingested the toxic substances (and especially coniine) present in the herbaceous plant called hemlock (Conium maculatum). Coniine may be lethal at a dose of 150 mg but it has neurotoxic effects at smaller doses, with acute R and acute kidney injury. Freezing and cooking the meat does not inactivate the alkaloids present in the birds' flesh and digestive tract. The clinical course of coturnism includes neurotoxicosis, tremor, vomiting, muscle paralysis, respiratory paralysis/failure, R and acute kidney injury. In appropriate geographical and temporal settings, it should be considered when diagnosing patients with acute R. The genetic, biochemical and epidemiological characteristics of coturnism are not yet fully known, while we wait reliable data from experimental studies.
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PMID:[Rhabdomyolysis: have you considered food poisoning from quails?] 3228 58