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

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

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4). Developmental failure may parallel the inability to increase weight, height, and head circumference. 3). In addition to the fact that the ketoacidotic episode is often ushered in with vomiting, these patients vomit frequently in infancy, and this may contribute to failure to thrive. 2 LG: A 14-month-old girl with methylmalonic acidemia. The size, that of a three-month-old infant, reflects the severe failure to thrive characteristic of this disorder. The frog-leg position illustrates the marked hypotonia.

It requires enormous commitment on the part of parents, physicians, and nutritionists. Furthermore, treatment must be monitored by periodic quantitative assay concentrations of methylmalonic acid to ensure optimal control, and of plasma amino acids to ensure the avoidance of protein malnutrition. Nevertheless, it may be successful. The reward in normal development may be high. In 25 years of experience with 66 patients with methylmalonic acidemia, Saudubray and colleagues [107] pointed out that 29 of 50 B12-unresponsive patients died, most of them prior to 1985, and only three after 1985.

J Clin Invest 1992; 89: 385. Jansen R, Ledley FD. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by PCR cDNA cloning. Am J Hum Genet 1990; 47: 808. Ledley FD, Crane AM, Lumetta M. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. Am J Hum Genet 1990; 47: 808. Wilkemeyer MG, Crane AM, Ledley FD. Differential diagnosis  of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.

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