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Organic acidurias, diagnosis

Chalmers, R.A. (1980), Organic acidurias diagnosis and investigation using GC-MS. In Current Developments in the Clinical Applications ofHPLCy GC and MS (eds. A.M. Lawson, C.K. Lim and W. Richmond), Academic Press, London, pp. 233-246. [Pg.139]

Chalmers RA, Lawson AM (1982) Organic Acids in Man Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias. Chapman and Hall, London... [Pg.167]

Acylcarnitine analysis was first performed in urine specimens in the evaluation of patients with organic acidemias. However, because it was found that acylcarnitine analysis of plasma is more informative for the diagnosis of FAO disorders than analysis of urine specimens, plasma has become the preferred specimen [17]. It is only recently that it was shown that urine acylcarnitine analysis still has a role in the diagnostic evaluation of patients with organic acidurias but uninformative or borderline abnormal results of plasma acylcarnitine and urine organic acid analysis [18-21]. In our laboratory, sample preparation and analysis is identical to that of plasma once a urine aliquot has been prepared that is based on the creatinine concentration. [Pg.185]

In the first instance, it is used to confirm a diagnosis when dealing with a patient with a metabolic problem. When the routine chemical screens indicate the presence of abnormal metabolites or raised levels of the usual metabolites, then MS can positively confirm their identity and thus a diagnosis, or, should it be a new inborn error, point to the metabolic pathways which are affected. In many of the organic acidurias described, the defect leads to gross excretion of one or more compounds and, as quantitative extraction is not necessary for their detection, simple solvent or other methods are normally used. In some instances it is vital that analysis be carried out quickly so as to indicate the most suitable clinical management of an acutely ill patient. [Pg.63]

Chalmers RA, Lawson AM. Organic acids in man— analytical chemistry, biochemistry, and diagnosis of the organic acidurias. London Chapman and Hall, 1982. [Pg.2243]

Gas Chromatographic Method of Analysis for Urinary Organic Acids. II. Description of the Procedures, and Its Application to Diagnosis of Patients with Organic Acidurias Clin. Chem. (Winston-Salem, N. C.) 26(13) 1847-1853 (1980) CA 94 79520s... [Pg.300]

The second part of the book is concerned with the organic acids in physiological fluids from normal subjects and presents both qualitative and quantitative data on adults and on the normal infant and normal neonate. The prenatal diagnosis of organic aciduria by direct chemical analysis of amniotic fluid has been achieved and the potential of this technique is underlined by a section on the organic acids normally present in this fluid. [Pg.5]

Chalmers, R.A., Lawson, A.M. and Raymond, F.D. (1979), Organic acids in human amniotic fluid and the prenatal diagnosis of the organic acidurias. Clin. ScL, 35, 5p. [Pg.204]

K lvraa, S., Gregersen, N., Christensen, E. and Gr n, I. (1977), Calcium levulinate medication. A pitfall in the diagnosis of organic acidurias. Clin. Chim. Acta, 77,197. [Pg.206]

The aims of prenatal (antenatal) diagnosis of inherited metabolic diseases, particularly the organic acidurias, require little explanation (Nadler and Burton, 1973). Many of the diseases lead to severe illness with death in early... [Pg.221]

Fig. 9.2 Protocol for the diagnosis of organic acidurias and other metabolic diseases in sick newborn babies and infants. The use of such a protocol would be expected to result in the detection of two-thirds of the identified inherited metabolic diseases and could be augmented by analyses for glycosaminoglycans, steroids, purines and pyrimidines in the older child. Fig. 9.2 Protocol for the diagnosis of organic acidurias and other metabolic diseases in sick newborn babies and infants. The use of such a protocol would be expected to result in the detection of two-thirds of the identified inherited metabolic diseases and could be augmented by analyses for glycosaminoglycans, steroids, purines and pyrimidines in the older child.
The prenatal diagnosis of the organic acidurias by enzyme assay on cultured amniotic cells is outside the scope of the present book and will not be discussed further however, attention will be given to an alternative approach to the prenatal diagnosis of the organic acidurias, that of direct chemical analysis of the cell-free amniotic fluid supernatant for accumulating metabolites excreted by the foetus into the fluid. [Pg.223]

Table 9.3 Prenatal diagnosis of organic acidurias by direct chemical analysis of cell-free amniotic fluid at 16-18 weeks gestation compared to enzymology on cultured cells + = achieved. (+) = possible. - = not possible or unknown)... Table 9.3 Prenatal diagnosis of organic acidurias by direct chemical analysis of cell-free amniotic fluid at 16-18 weeks gestation compared to enzymology on cultured cells + = achieved. (+) = possible. - = not possible or unknown)...
TTierapy of the patient with an organic aciduria, who is frequently an acutely ill newborn or infant with severe ketoacidosis, that may be episodic and associated with vomiting, fits and coma, is initially directed at the management of the acute episodes, and supportive therapy will often have been initiated before the diagnosis has been made. Assisted ventilation, control of the acidosis with intravenous bicarbonate and cessation of all protein intake with maintenance by intravenous or oral dextrose are the general immediate requirements, dependent on the clinical state of the patient (Gompertz, 1975 ... [Pg.230]


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See also in sourсe #XX -- [ Pg.327 , Pg.328 , Pg.329 , Pg.330 , Pg.331 , Pg.332 , Pg.333 , Pg.334 , Pg.335 , Pg.336 ]

See also in sourсe #XX -- [ Pg.327 , Pg.328 , Pg.329 , Pg.330 , Pg.331 , Pg.332 , Pg.333 , Pg.334 , Pg.335 , Pg.336 ]




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