By William L. Nyhan M.D., Bruce A. Barshop M.D., Pinar T. Ozand M.D.
In a box the place even specialists may perhaps locate that years have elapsed for the reason that they final encountered a toddler with a given disease, it truly is crucial for the clinician to have a complete resource of functional and hugely illustrated details protecting the total spectrum of metabolic illness to consult. the second one variation of this very popular publication, authored by means of 3 of the key professionals in pediatric metabolic medication, fulfils this want by means of offering a useful perception into the issues linked to metabolic illnesses. For ease of reference, Atlas of Metabolic sickness is split into sections of similar issues, reminiscent of issues of amino acid metabolism, lipid garage issues and mitochondrial ailments, with an introductory define the place acceptable summarizing the biochemical gains and common administration matters. inside of sections each one bankruptcy offers with somebody affliction, beginning with an invaluable precis of significant phenotypic expression and together with transparent and beneficial biochemical pathways, opting for for the reader precisely the place the illness is going on. during the ebook, abundant images, usually displaying super infrequent issues, are a useful reduction to analysis.
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Additional info for Atlas of Metabolic Diseases, 2nd Edition
Acta Paediatr Scand 1969;58:178. 89 Hsia YE, Scully K, Lilljeqvist AC, Rosenberg LE. Vitamin B12-dependent methylmalonic aciduria. Pediatrics 1970;46:497. 90 Morrow III G, Burkel GM. Long-term management of a patient with vitamin B12-responsive methylmalonic acidemia. J Pediatr 1980;96:425. 91 Ney DN, Bay C, Saudubray J-M, et al. An evaluation of protein requirements in methylmalonic acidaemia. J Inherit Metab Dis 1985;8:132. 92 Kelts DG, Ney D, Bay C, et al. Studies on requirements for amino acids in infants with disorders of amino acid metabolism.
We believe that many patients die with the disease unrecognized, and that the disease is more common than realized. A typical episode is ushered in with ketonuria and vomiting, followed by acidosis, dehydration and lethargy, leading, in the absence of aggressive treatment, to coma and death. Episodes of acute illness are recurrent. They may follow even minor infections. Furthermore patients are unusually prone to infection. Episodes are also a consequence of feeding: these patients are intolerant of the usual quantities of dietary protein.
65 Bolann BJ, Solli JD, Schneede J, et al. Evaluation of indicators of cobalamin deficiency defined as cobalamin-induced reduction in increased serum methylmalonic acid. Clin Chem 2000;46:1744. 66 Wolff JA, Sweetman L, Nyhan WL. The role of lipid in the management of methylmalonic acidemia: administration of linoleic acid does not increase excretion of methylmalonic acid. J Inherit Metab Dis 1985;8:100. 67 Morrow G, Mahoney MJ, Mathews C, Lebowitz J. Studies of methylmalonyl Coenzyme A carboxymutase activity in methylmalonic acidemia.