New PDF release: Atlas of Inherited Metabolic Diseases 3E

By Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I

ISBN-10: 1444112252

ISBN-13: 9781444112252

ISBN-10: 1444149482

ISBN-13: 9781444149487

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Sample text

In 1968, Rosenberg and colleagues [3] first clearly distinguished these patients from those with propionic acidemia (Chapter 2), in whom the clinical presentation is often virtually identical. Genetic heterogeneity was evident early in the demonstration in that some patients with methylmalonic acidemia were responsive to large doses of vitamin B12, while some others were not [4]. The methylmalonyl CoA mutase enzyme has a vitamin B12-derived cofactor, adenosylcobalamin AdoCbl. Patients who are B12responsive clinically have defects in the synthesis of the cofactor.

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism a sensitive assay using cultured cells. Hum Genet 1976; 34: 277. Morrow G, Revsin B, Mathews C, Giles H. A simple rapid method for prenatal detection of defects in propionate metabolism. Clin Genet 1976; 10: 218. Morrow G, Barness LA, Cardinale GJ. Congenital methylmalonic acidemia: enzymatic evidence for two forms of disease. Proc Natl Acad Sci USA 1975; 72: 2799. Mahoney MJ, Hart AC, Steen VD, Rosenberg LE.

At least four successful pregnancies have been reported in women with methylmalonic acidemia [54, 55] despite evidence of renal impairment. One was mut− and one B12-responsive. As predicted, levels of MMA decreased dramatically as the fetus grew [55]. These experiences documented that MMA is not teratogenic. Some patients with MMA have been clinically normal. Presumably, these individuals are mut− variants with a considerable level of activity in vivo. So-called ‘benign methylmalonic acidemia’ has been reported in at least nine clinically normal individuals [56, 57], eight of them identified through routine neonatal screening [56].

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Atlas of Inherited Metabolic Diseases 3E by Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I

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