By William L. Nyhan M.D., Bruce A. Barshop M.D., Pinar T. Ozand M.D.
In a box the place even specialists may well locate that years have elapsed when you consider that they final encountered a toddler with a given ailment, it truly is crucial for the clinician to have a complete resource of useful and hugely illustrated info protecting the complete spectrum of metabolic ailment to consult. the second one variation of this very hot e-book, authored through 3 of the key gurus in pediatric metabolic medication, fulfils this desire via delivering a useful perception into the issues linked to metabolic ailments. For ease of reference, Atlas of Metabolic sickness is split into sections of comparable issues, corresponding to issues of amino acid metabolism, lipid garage issues and mitochondrial ailments, with an introductory define the place acceptable summarizing the biochemical beneficial properties and normal administration matters. inside sections each one bankruptcy offers with someone disorder, beginning with an invaluable precis of significant phenotypic expression and together with transparent and useful biochemical pathways, deciding on for the reader precisely the place the disorder is going on. through the e-book, ample pictures, usually displaying super infrequent issues, are a useful reduction to prognosis.
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Extra info for Atlas of Metabolic Diseases, 2nd Edition
Numbers 8037 and 8363 were patients with mut 0 methylmalonic acidemia. 2 Excretion of methylmalonic acid Clinical status Amount excreted mmol/mol creatinine Normal Mut0; presentation Mut0; steady-state B12-responsive; presentation B12-responsive; steady-state B12-deficient infant Transcobalalmin II deficiency Cobalamin C, D Atypical-normal mutase 0–2 3000–13 000 200–2000 2000 90–300 4500–5700 600 270 200 but by quantitative analysis of acylcarnitine profiles of plasma (Chapter 1). Answers are more rapidly available in emergency situation than by GCMS of urinary methylmalonate.
52 Morrow III G, Schwarz RH, Hallock JA, Barness LA. Prenatal detection of methylmalonic acidemia. J Pediatr 1970;77:120. 28 Methylmalonic acidemia 53 Mahoney MJ, Rosenberg LE, Lindblad B, et al. Prenatal diagnosis of methylmalonic aciduria. Acta Paediatr Scand. 1975;64:44. 54 Naylor G, Sweetman L, Nyhan WL, et al. Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. Clin Chim Acta 1980;107:175. 55 Trefz FK, Schmidt H, Tauscher B, et al.
71 Fenton WA, Hack AM, Kraus JP, Rosenberg LE. Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. Proc Natl Acad Sci USA 1987;84:1421. 72 Mahoney MJ, Rosenberg LE, Mudd SH, Uhlendorf BW. Defective metabolism of vitamin B12 in fibroblasts from patients with methylmalonic aciduria. Biochem Biophys Res Commun 1971;44:375. 73 Rosenberg LE, Lilljeqvist AC, Hsia YE, Rosenbloom FM. Vitamin B12dependent methylmalonic aciduria: defective metabolism in cultured fibroblasts.