aciduria in English
noun
presence of acid in urine
Use "aciduria" in a sentence
1. Amino-aciduria was normal.
2. L-2-Hydroxyglutaric aciduria).
3. Treatment of methylmalonic aciduria, isovaleric aciduria, and other organic acidurias with tocotrienol quinones
4. The characteristic neuroradiologic manifestations of glutaric aciduria type I are illustrated.
5. Despite repeated dicarboxylic aciduria we could not find enzymatic disorders of fatty acid oxydation.
6. We present an algorithm for the rational diagnosis of glutaric aciduria type I (GA1).
7. Barth's syndrome develops in male children with granulocytopenia, dilated cardiomyopathy, and methylglutaconic aciduria.
8. Congenital methylmalonic aciduria (MMA) is a metabolic disorder inherited by an autosomal recessive trait.
9. The neurological outcome of children with type I glutaric aciduria has improved dramatically in Germany over the last 10 years.
10. • Innate metabolic error (type 1 hereditary tyrosinemia, hyperammoniemia due to urea cycle anomalies, organic aciduria, mitochondrial cytopathies) Not Applicable
11. A patient with argininosuccinic aciduria was charged with 50 grams of protein, which was followed by considerable hyperammonemia.
12. In humans, L-2-Hydroxyglutaric aciduria was the first disease linked to a missing metabolite repair enzyme.
13. We present case histories on the clinical course, biochemical and radiologic findings of patients with glutaric aciduria type I, Canavan's Disease, L-2-OH-glutaric aciduria and one patient with macrocephaly and isolated complex I deficiency of the respiratory chain.
14. Discussion: In conclusion, Reye-like syndromes and dicarboxylic aciduria in infancy may be the first signs of cystic fibrosis.
15. Urine organic acid analysis by gas chromatography-mass spectrometry (GC-MS) will show a pattern of dicarboxylic aciduria with low levels of ketones.
16. In case of coma, intoxications in relation to urea cycle disorder, organic aciduria or maple syrup urine disease should be considered.
17. Thus, type I glutaric aciduria is a good example to demonstrate the power of interdisciplinary translational research and structured medical care for patients with rare diseases.
18. Disorders of energy metabolism and “endogenous intoxications” (syndromes leading to hyperammonemia, hyperhomocysteinemia, porphyria, aminoacidopathy, and organic aciduria) represent the two major categories of IEMs.
19. Vigabatrin may increase the amount of amino acids in the urine possibly leading to a false positive test for certain rare genetic metabolic disorders (eg, alpha aminoadipic aciduria
20. To present the anesthetic management for the correction of a ventricular septal defect (VSD) in a patient with multiple acyl CoA dehydrogenase deficiency (glutaric aciduria type II; GAII).
21. This improvement can be attributed to the formulation and implementation of evidence-based therapeutic recommendations as well as the inclusion of type I glutaric aciduria in newborn screening programs.
22. Glutaric aciduria type I is a disease caused by deficiency of the enzyme Glutaryl CoA-Dehydogenase with an increased urinary excretion of glutaric and 3-hydroxy-glutaric acid.
23. The present invention relates to methods of treating methylmalonic aciduria and other organic acidurias with tocotrienol quinones, including alpha-tocotrienol quinone, in order to alleviate symptoms of the disease.
24. We report on two patients in whom glutaric aciduria type I was misdiagnosed as battered child syndrome because of subdural hygromas which are a peculiar feature of the underlying metabolic disease.
25. According to the relative frequency of organoacidurias and the option of preventive treatment for patients with glutaric aciduria type I, organic acid analysis should be performed vigorously also in neurologically asymptomatic patients with unclear macrocephaly.
26. In survivors there was generally a temporary anorexia, oligodipsia, loss of body weight, diuresis, glycosuria or proteinuria, aciduria or alkalinuria, abdominal tenderness, epistaxis, hemodacryorrhea, hind limb paralysis, prostration and thoracic rales lasting for a day or two.
27. Canavan disease, Pelizaeus-Merzbacher disease, Alexander disease, X-chromosomal adrenoleukodystrophy and adrenomyeloneuropathy, mitochondrial disorders, such as MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) and Leigh syndrome as well as L-2-hydroxyglutaric aciduria are presented.
28. The research, which began more than 20 years ago, will allow doctors to perform earlier diagnosis, assess 'carriers' of the disease-Combined Methylmalonic aciduria (MMA) and Homocystinuria-and open the door to new and improved treatments for this debilitating disease.
29. The composition may in particular be used in the treatment of a human suffering from a disorder selected from the group consisting of phenylketonuria, homocystinuria, maple syrup urine disease, tyrosinaemia, propionic acidaemia, methylmalonic acidaemia, isovaleric acidaemia, urea cycle disorders and glutaric aciduria.
30. Also disclosed is a method for treatment, amelioration or prophylaxis of a disease selected from the group consisting of phenylketonuria (PKU, Følling's disease), hyperphenylalaninemia (HPA), alcaptonuria (black urine disease), tyrosinemia, hypertyrosinemia, myasthenia gravis, histidinemia, urocanic aciduria, maple syrup urine disease (MSUD), isovaleric acidemia (isovaleryl-CoA dehydrogenase deficiency), homocystinuria, propionic acidemia, methylmalonic acidemia, and glutaric aciduria Type 1 (GA-I), galactosemia, comprising administering to the gastrointestinal tract of a patient in need thereof an effective amount of a composition of molecular imprinted polymers (MIPs), said composition being capable of binding a symptom provoking agent of said disease.
31. The existence of this β-oxidation has been previously supported by the occurrence of 4-hydroxybutyrate and its β-oxidation catabolites in urine from patients with 4-hydroxybutyric aciduria, an inborn error of γ-aminobutyric acid metabolism due to the deficiency of succinic semialdehyde dehydrogenase.
32. The invention pertains generally to sensitive diagnostic assay devices, methods and kits for determining the presence, absence and/or amount of analytes in fluid samples The devices (figures 3a & 3b) are based on molecularly imprinted polymers (MlPs) for use in real¬ time measurements of levels of analytes, particularly small molecules, in fluid samples One such device is a device for determination of B12 (cobalamin) deficiency or methylmalonic aciduria by measuring methylmalonic acid (MVA) in either blood or urine.
33. The data collected so far allow conclusions to be drawn for (a) tyrosinemia type I (TYR I) and (b) propionic acidemia, methylmalonic aciduria and vitamin B12 related disorders (PA/MMA/B12). (a) Succinylacetone (instead of the unspecific tyrosine) as the diagnostic metabolite marker for TYR I is derivatized to hydrazone and simultaneously analyzed with amino acids and acylcarnitines by electrospray ionization tandem mass spectrometry. (b) In newborns suspected of having PA/MMA/B12 due to elevated concentrations of propionylcarnitine (C3), methylmalonic acid (MMS) and 3-OH-propionic acid (3-OH-PS) were quantified in a second tier testing using the identical filter card by liquid chromatography tandem mass spectrometry. (a) Out of 480,000 newborns 3 were identified as having TYR I.