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Acidaemia

Kimura M, Yamamoto T, Yamaguchi S. A personal computer-based system for interpretation of gas chromatography mass spectrometry in the diagnosis of organic acidaemias. Ann Clin Biochem 1999 36 671-672... [Pg.9]

Diabetes - insulin dependent Methyl malonic, propionic or isovaleric acidaemias Pyruvate carboxylase and multiple carboxylase deficiency Gluconeogenesis enzyme deficiency glucose-6-phosphatase, fructose-1,6-diphosphatase or abnormality of glycogen synthesis (glycogen synthase) Ketolysis defects Succinyl coenzyme A 3-keto acid transferase ACAC coenzyme A thiolase... [Pg.48]

Kerckaert I, Poll-The , Espeel M, Duran M, Roeleveld AB, Wanders RJA, Roels F (2000) Hepatic peroxisomes in isolated hyperpipecolic acidaemia evidence supporting its classifications as a single peroxisomal enzyme deficiency. Virchows Arch 436 459-465... [Pg.136]

Bartlett K, Gompertz D (1974) The specificity of glycine-N-acylase and acylglycine excretion in the organic acidaemias. Biochem Med 10 15-23... [Pg.166]

Van Hove JL, Chace DH, Kahler SG, Millington DS (1993) Acylcarnitines in amniotic fluid application to the prenatal diagnosis of propionic acidaemia. J Inherit Metab Dis 16 361-367... [Pg.204]

Abdenur JE, Chamoles NA, Guinle AE, Schenone AB, Fuertes AN (1998) Diagnosis of isovaleric acidaemia by tandem mass spectrometry false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis 21 624-630... [Pg.206]

M12. Morrow, G., and Burkel, G. M., Long term management of a patient with vitamin B12-responsive methylmalonic acidaemia. J. Pediatr. 93, 425-426 (1980). [Pg.213]

Short chain fatty acidaemia Butanoic, hexanoic... [Pg.63]

Isovaleric acidaemia 3-Methylbutanoic (isovaleric), 3-methyl-butanoylglycine, 3-hydroxy-3-methyl-butanoic... [Pg.63]

Propionic acidaemia (ketonic hyper- Propionic, 3-hydroxypropionic, 2-methyl-... [Pg.63]

Multiple carboxylase deficiency Non-ketotic hyperglycinaemia S-Oxoprolinuria Phenylketonuria Propionic acidaemia... [Pg.51]

Propionic acidaemia This is caused by deficiency of enzymes involved in the metabolism of propionyl coenzyme A... [Pg.63]

Acidaemia and alkalaemia refer simply to whether the [H in blood is higher or lower than normal, and the terms are not frequently used. [Pg.100]

Table 41.7 Methionine-, threonine-, valine- and Isoleuolne-free dietary preparations for the management of methylmalonic acidaemia and proprionio aoidaemia ... Table 41.7 Methionine-, threonine-, valine- and Isoleuolne-free dietary preparations for the management of methylmalonic acidaemia and proprionio aoidaemia ...
Table 41.9 Isovaleric acidaemia and disorders of leucine metabolism, dietary preparations used in treatment ... Table 41.9 Isovaleric acidaemia and disorders of leucine metabolism, dietary preparations used in treatment ...
Dixon, M., Macdonald, A. and White, F. (2001). Disorders of amino acid metabolism, organic acidaemias and urea cycle defects. In (eds V. Shaw and M. Lawson), Clinical Paediatric Dietetics, 2nd edn. Blackwell Science, Oxford UK, pp. 233-294. [Pg.400]

Yannicelli S. Nutrition therapy of organic acidaemias with amino acid-based formulas emphasis on methylmalonic and propionic acidaemia. J Inherit Metab Dis. 2006 29(2-3) 281-7. [Pg.72]

Rafique M. Propionic acidaemia demographic characteristics and complications. J Pediatr Endocrinol Metab. 2013 26(5-6) 497-501. [Pg.197]

Martfn-Hemandez E, et al. Long-term needs of adult patients with organic acidaemias outcome and prognostic factors. 1 Inherit Metab Dis. 2009 32(4) 523-33. [Pg.198]

Lee TM, et al. Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis. 2009 32 Suppl LS97-101. [Pg.198]

Richard E, et al. Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/ caspase pathway. J Pathol. 2007 213(4) 453-61. [Pg.199]

Al-Hassnan ZN, et til. The relationship of plasma gluteunine to ammonium and of glycine to add-base beileuice in propionic acidaemia. J Inherit Metab Dis. 2003 26(1) 89-91. [Pg.199]

Schwahn BC, et aL Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia. Eur J Pediatr. 2010 169(1) 133. ... [Pg.200]

Abacan M, Boneh A. Use of caiglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. Mol Genet Metab. 2013 109(4) 397-401. [Pg.200]

See other pages where Acidaemia is mentioned: [Pg.12]    [Pg.47]    [Pg.49]    [Pg.218]    [Pg.216]    [Pg.12]    [Pg.166]    [Pg.26]    [Pg.67]    [Pg.2243]    [Pg.49]    [Pg.50]    [Pg.600]    [Pg.601]    [Pg.700]    [Pg.316]    [Pg.72]    [Pg.197]    [Pg.198]    [Pg.198]    [Pg.199]   
See also in sourсe #XX -- [ Pg.50 ]



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Lactic acidaemia

Methylmalonic acidaemia

Prenatal diagnosis of propionic acidaemia

Propionic acidaemia

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