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)

Congenital hyperdibasicaminoaciduria without cystinuria was detected in a mentally but not physically retarded boy. Plasma lysine and arginine were normal, whereas plasma ornithine was decreased. Although oral or intravenous loading tests could not be performed, the history without vomiting or diarrhea, and the normal physical development indicated an unimpaired intestinal transport of basic aminoacids. Our case could be a further mutant of this transport defect which concerns the renal tubuli only.
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PMID:[Congenital hyperlysin-arginin-ornithinuria in a mentally retarded child (author's transl)]. 91 28

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

A 16-year-old boy with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome was reported. He was the second child of first-cousin consanguineous parents. Since childhood, he was mentally retarded and had frequent episodes of vomiting but no unconsciousness attack. Because of progressive gait disturbance since the age of 15, he was admitted to Kyushu University Hospital. Neurological examination revealed mental defect and spastic paraparesis with bilateral positive pathological reflexes. Moreover, severe muscle atrophy and moderate weakness were observed in the distal portion of lower extremities. The diagnosis of HHH syndrome was made by the examination of amino acids in the serum and urine and by the incorporation study of radioactive ornithine into cultured fibroblasts. EMG and nerve biopsy studies suggested that the muscle atrophy seen in this patient was caused by the degeneration of spinal anterior horn cells. Amino acid imbalance, especially elevation of glutamine and glutamic acid in the CSF, may cause dysfunction of neuronal system including anterior horn cells.
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PMID:[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs]. 129 Nov 65

Recurrent vomiting without apparent cause should alert the physician to the possibility of a disorder of ammonia metabolism. Crystalluria in a three-month-old male infant with a history of intermittent vomiting since birth and incipient coma led to the discovery of orotic aciduria. A diagnosis of ornithine carbamyl transferase (OCT) deficiency was derived from study of the liver after the infant had died; residual activity was about 5% of normal. Ammonia intoxication was the presumed cause of death. Overproduction of orotic acid and other pyrimidines reflects the deficiency of OCT. The possibility of genetic heterogeneity for the hereditary trait under observation must be considered because it may influence prognosis and counselling.
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PMID:Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant. 507 51

Multiple oral doses of alpha-difluoromethyl-ornithine (alpha-DFMO), 18-24 g/day for up to 2 months, were administered to 2 patients with invasive and metastatic carcinoma of the bladder and to 3 patients with metastatic renal cancer in an open study. The moderate antigrowth effect of alpha-DFMO in these patients was concluded from the results of serial kidney, liver and bone scintigrams, from the low frequency of a local recurrence of bladder carcinoma and from the survival rate of 4 of 5 patients after 12 months. Increased excretion of hydroxyproline and beta2-microglobulin were measured 1 month following alpha-DFMO treatment suggesting initial tumor necrosis and degradation. Treatment was poorly tolerated with gastrointestinal side effects (e.g. gastritis, vomiting, diarrhea) in all subjects, erythropenia in 2 subjects (associated with thrombocytopenia and leucopenia in 1 subject each), and audiovestibular symptoms in 2 patients. All side effects were reversible and normal function returned 2-4 months after stopping therapy.
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PMID:The effect of alpha-difluoromethyl-ornithine on tumor growth, acute phase reactants, beta-2-microglobulin and hydroxyproline in kidney and bladder carcinomas. 616 80

We report the first case of lysinuric protein intolerance observed in Germany. A girl of Turkish ancestry suffered from severe dehydration at the age of 6 months after changing from breast milk to cow milk. Because of a microcytic hypochromic anaemia and erythrophagocytosis in the bone marrow a hematologic disease (Farquar's disease) was suspected. The definite diagnosis of lysinuric protein intolerance was eventually clarified by the following laboratory and clinical data: increased urinary excretion and low plasma concentration of lysine, arginine and ornithine, apathy, vomiting, diarrhea and hyperammonemia after an oral protein load, high serum LDH-activity, ferritinemia, and increased urinary excretion of orotic acid. Under therapy with citrullin and a low-protein diet the metabolic situation remained stable, even during infections. The bone marrow findings have been reported only in one further case of lysinuric protein intolerance.
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PMID:[Lysinuric protein intolerance]. 642 Jun 70

English Pointer puppies were used in experiments designed to assess urea cycle function. A preliminary assay revealed a dietary arginine (Arg) requirement of 0.40% for maximal weight gain of puppies fed a chemically defined L-amino acid diet. Subsequent studies showed that consumption of an Arg-free diet resulted in growth failure, emetic episodes, mild hyperammonemia, decreased plasma Arg and urea, and orotic aciduria. Oral administration of ornithine (Orn), equimolar to 0.40% Arg, failed to correct these Arg deficiency symptoms. Consumption of an equimolar concentration of citrulline (Cit), on the other hand, resulted in near normal weight gains, but blood and urine metabolite levels still did not parallel those of dogs fed Arg. Plasma glucose concentration was unaffected by dietary treatment. Older dogs (20 weeks of age) performed no better than younger dogs (7 weeks of age) when fed an Arg-free diet. In a serial bleeding study, plasma ammonia increased after ingestion of an Arg-free diet, reached a peak during emesis and declined immediately thereafter. In contrast, plasma ammonia of dogs fed an Arg-adequate diet remained relatively constant. It was apparent that in terms of meaningful Arg replacement value, Orn had minimal activity. Cit could replace Arg for growth, but was not as efficient as Arg for urea cycle function.
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PMID:Urea cycle function in the dog with emphasis on the role of arginine. 669 39

We found that more than 50% of premature infants have elevated plasma ammonium levels during the first 2 months of life. Ammonium levels were twice normal and were unaccompanied by clinical symptoms of vomiting or lethargy. Ten of these infants were given supplements of arginine (1 to 2 mmol/kg/day PO) for 1 to 2 weeks preceded and followed by control periods. In each infant, plasma ammonium levels fell significantly within 2 days of start of arginine supplementation, and increased once arginine was discontinued. We studied 59 additional premature infants, of whom 26 had normal ammonium levels and 33 were hyperammonemic. Plasma arginine and ornithine levels were significantly lower in the hyperammonemic group, but there was no difference in urinary excretion of arginine or ornithine between groups. Half of the hyperammonemic infants received arginine supplementation between 2 and 8 weeks of age. Plasma ammonium levels in the arginine group was 33 + 1 mumol/L., compared to 45 + 2 mumol/L in the untreated group. Follow-up at 18 months of age showed similar IQ scores in all groups, suggesting that significant neurologic deficits do not result from this transient metabolic defect. The mechanism of the hyperammonemia is unclear.
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PMID:Arginine-responsive asymptomatic hyperammonemia in the premature infant. 673 53

Lysinuric protein intolerance is an autosomal recessive disease, due to a defect in intestinal, renal and hepatic dibasic amino acid transport. Two new cases in the same family are reported. The disease appears progressively during the first months of life with failure to thrive, anorexia, vomiting, diarrhea, hepatosplenomegaly, muscular weakness, osteoporosis, anemia, leukothrombocytopenia, hyperammonemia and orotic aciduria after a high-protein intake. Hyperdibasicamino-aciduria was associated with subnormal plasma concentrations of the same aminoacids. Oral l-arginine, l-ornithine, l-lysine, and lysyl-glycine loads confirmed the diagnosis. The supplementation of the diet with l-citrulline resulted in normal levels of blood ammonia. However, hepatosplenomegaly, muscular weakness, osteoporosis remained unchanged and growth was not improved. These may be due to lysine deficiency.
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PMID:[Lysinuric protein intolerance: a severe hyperammonemia secondary to l-arginine deficiency (author's transl)]]. 680 Mar 34

Venalot, a mixture of coumarin and troxerutin, in the proportion 1 to 6 respectively, was given orally to baboons at dosages of 0, 100, 300 and 1000 mg/kg/day for 26 weeks. Vomiting, usually within 3 h of administration and considered to be of central origin, in addition to vomiting immediately after dosing, was noted in animals receiving 1000 mg/kg/day. At this level, collapse on several occasions in two animals, one of which died, was also observed. Another animal receiving 1000 mg/kg/day was killed for humane reasons following a period of weight loss, reduced appetite and deterioration in body condition. However, no adverse effect on body weight gain, food or water consumption, ophthalmoscopic or electrocardiographic examinations were noted in any other animals during this study. Increased levels of liver function (serum leucine amino-peptidase (LAP), and serum ornithine carbamyl transferase (OCT) were noted during the dosing period, together with slightly increased liver weights terminally for animals receiving 1000 mg/kg/day; however, as no morphological or ultrastructural changes were noted, these findings were considered to be attributable to hypertrophy.
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PMID:Toxicity of venalot (a mixture of coumarin and troxerutin) in the baboon. 682 41


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