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 methylmalonic aciduria (MMA) is a metabolic disorder inherited by an autosomal recessive trait. The metabolic block is located in the catabolic pathway of propionyl-CoA to succinyl-CoA. Biochemically, four enzymatic defects have been recognized, i.e.: 1. Methylmalonyl-CoA racemase. 2. Methylmalonyl-CoA mutase apoenzyme. 3. Synthesis of desoxyadenosyl-cobalamine. 4. Disturbance at an earlier level of cobalamine metabolism which causes defective synthesis of both vitamin B12-coenzymes. These four enzymatic defects express themselves in three ways: non-vitamin B12-dependent MMA (defects 1 and 2); vitamin B12-dependent MMA (defect 3); MMA associated with homocystinuria (defect 4). The various forms of MMA cannot be distinguished clinically from one another. The disorder manifests itself during the first few days to weeks of life. Principal symptoms and signs are: anorexia, vomiting, muscular hypotonia and metabolic acidosis. The diagnosis is established by determination of methylmalonic acid in plasma, cerebrospinal fluid and urine, as well as by assay of enzyme activities in leukocytes, liver tissue or cultured fibroblasts (from biopsied skin). A prenatal diagnosis is feasible by the examination of cultured amnion cells, amniotic fluid and maternal urine. Therapy of non vitamin B12-dependent MMA calls for reduction of protein intake, particularly that of precursors of methylmalonic acid, such as methionine, threonine, isoleucine and valine. The treatment of vitamin B12-dependent forms is accomplished by i.m. injection of high doses of vitamin B12. No definite statement can be made as yet with regard to long-term prognosis and normalcy of mental development in treated children.
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PMID:[Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)]. 31 93

Investigation of a neonate presenting with a metabolic acidosis, vomiting and an apnoeic attack revealed abnormal urinary excretion of methylmalonic acid (MMA) associated with a low serum vitamin B12. Restriction of dietary protein was followed by normalisation of acid-base balance. Reintroduction of normal daily protein intake did not precipitate flrther acidosis or increased excretion of MMA. The transient methylmalonicaciduria was probably due to deficiency of vitamin B12.
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PMID:Neonatal acidosis associated with transient methylmalonicaciduria and vitamin B12 deficiency. 83 78

A 3-month-old male infant had two episodes of fever, projectile vomiting, dehydration, generalized fine tremors and gross metabloic ketoacidosis. Methylmalonic acid was found in high concentration in both serum and urine, although the concentration of serum vitamin B12 was normal. A therapeutic trial of vitamin B12, administered parenterally, reduced greatly the methylmalonic aciduria. The patient has since been given vitamin B12 supplements continuously, initially 1 mg intramuscularly every other day, then 15 mg/d orally, and the protein in his diet was subsequently restricted. The most effected control of the methylmalonic aciduria was achieved with the combined regimen of oral vitamin therapy and dietary protein restriction. His physical and intellectual development have progressed normally and he has survived several acute respiratory tract infections without recurrence of metabolic acidosis.
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PMID:Methylmalonic acidemia controlled with oral administration of vitamin B12. 95 84

The reported case was a female infant aged 7 months with severe ketoacidosis associated with vomiting, dehydration and cardiorespiratory disturbances at the time of exacerbation of the disease. The analysis of urinary organic acids by the GC-MS method revealed methylmalonic aciduria. After placing the infant on a low-protein diet (1.5 g of protein per 1 kg of body weight) and initially vitamin B12 parenterally a striking clinical improvement with evident progress in psychomotor development of the child was achieved.
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PMID:A case of vitamin B12--independent methylmalonic aciduria. 184 19

Megaloblastic anaemia is very rare in the first weeks of life and it is related to impaired metabolism of folic acid or vitamin B12. One of this disorders is the congenital transcobalamin II deficiency. The case of a three month old infant, with vomiting, diarrhoea and severe anaemia is presented. Both parents and the child had very low or undetectable levels of serum TC II, respectively. Using i.m. hydroxycobalamin at high doses, the clinical and laboratory responses have been satisfactory.
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PMID:[Megaloblastic anemia caused by a congenital deficiency of transcobalamin II. Apropos of a new case]. 261 85

Ipecac-induced emesis and gastric lavage are the two procedures most widely used to evacuate the stomachs of patients who have ingested poisons. To resolve a long-standing controversy over the relative efficacy of these two methods, the authors carried out a controlled study in which they administered 25 100-micrograms tablets of cyanocobalamin (vitamin B12) to 18 fasting normal adult volunteers on two separate days. On one day, each subject had emesis induced with 30 ml of ipecac syrup followed by 1,000 ml of tap water; on another day, each underwent gastric aspiration and lavage with a 1.1-cm orogastric tube using 3 l of fluid. Both procedures were begun 10 minutes after the ingestion. The recovered vomitus or gastric washings from each procedure were then analyzed for elemental cobalt using atomic absorption spectrophotometry. The mean rate of recovery of the ingested tracer with ipecac-induced emesis was only 28%, whereas gastric lavage resulted in retrieval of 45% (paired t-test, P less than 0.005). In this study, carefully performed gastric lavage was the more effective method of gastric evacuation of tablets in the adult subject.
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PMID:Ipecac-induced emesis versus gastric lavage: a controlled study in normal adults. 287 Jul 22

We report the case of a 5 month old breast fed infant who presented with a history of vomiting, pallor, and failure to thrive. Investigations showed severe nutritional vitamin B12 deficiency with a megaloblastic pancytopenia. This deficiency was due to low vitamin B12 concentrations in the maternal breast milk, and subsequent investigations showed maternal pernicious anaemia. Treatment of the infant with vitamin B12 resulted in a rapid clinical and haematological improvement. This case represents an unusual presentation of pernicious anaemia.
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PMID:Vitamin B12 deficiency in a breast fed infant. 341 28

A patient is described who presented at an early age with failure to thrive and vomiting, and had a gross excretion of formimino glutamic acid. She had normal concentration of serum folate and vitamin B12, and no haematological abnormalities, and is not mentally retarded. The Michaelis constant for erythrocyte formimino glutamate transferase was in the normal range, but the enzyme behaves differently from that from reference subjects with respect to inhibitors and activators.
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PMID:Erythrocyte formimino glutamate transferase in FIGLU aciduria. 360 14

A male infant with methyl-B12 deficiency (cblE) presented at age 6 weeks with lethargy, staring spells, and vomiting. He later became hypotonic and unresponsive to stimuli and required intubation and ventilation. He had homocystinuria and hypomethioninemia with megaloblastic anemia but normal serum folate and vitamin B12 concentrations. No methylmalonic aciduria was detected. Fibroblasts, cultured from the patient, were unable to grow in medium in which homocysteine replaced methionine and incorporated abnormally small amounts of [14C]-methyl-tetrahydrofolate but normal amounts of [14C]-propionate into protein. Methyl-B12 content of fibroblasts was low, while the adenosyl-B12 content was normal. Methionine synthase activity was decreased when the assay was performed under both optimal and suboptimal reducing conditions, suggesting heterogeneity in the cblE disease. The patient responded dramatically to hydroxocobalamin treatment. Homocystinuria disappeared after 10 days of therapy, and methionine was normalized after 3 weeks. Psychometric testing at age 15 months showed a developmental age of 9 months.
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PMID:Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency. 381 89

During a period of 12 months beginning on 18 February 1985, 1246 specimens of faeces from 935 children aged 3 weeks to 12 years with acute diarrhoea of varying severity were examined for the presence of cryptosporidium oocysts. Twenty-six patients required admission to hospital; four of them needed intravenous rehydration. Predominant clinical features were diarrhoea, often watery, and vomiting. Diarrhoea varied in duration between 7-15 days. Cryptosporidium oocysts were found in specimens from 41 patients, an incidence of 4.3%. In four patients an additional enteropathogen was identified (Campylobacter species in two and enteropathogenic Escherichia coli in two - serotypes 0126: K71 (B16) and 018C: K77 (B12]. None of the patients had recently travelled abroad. Of the children 23 were from a farming or rural background. Eight of the farms had recently had significant outbreaks of diarrhoea among calves. There was a marked seasonal variation with 27 of the cases arising between 18 February and 18 June, an incidence during this period of 8%.
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PMID:Cryptosporidium among children with acute diarrhoea in the west of Ireland. 381 59


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