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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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Research in Infant Assessment. White Plains, NY: March of Dimes Birth Defects Foundation, 1989 (Birth Defects 25: 153). Harting I, Seitz A, Geb S et al. Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia. J Inherit Metab Dis 2008; 31: 368. Dave P, Curless RG, Steinman L. Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch Neurol 1984; 41: 1293. Sheldon B, Sheldon K, Sheldon P, Sheldon J. Memory of Andrew M Sheldon, MMA. OAA Newsletter 2003; 13: 19.

J Neurogenet 1985; 2: 31 Broyer M, Guesry P, Burgess E-A et al. Acidemie methylmalonique avec nephropathie hyperuricemique. Arch Franc Pediatr 1974; 31: 543. Rutledge SL, Geraghty M, Mroczek E et al. Tubulointerstitial nephritis in methylmalonic acidemia. Pediatr Nephrol 1993; 7: 81. 30 Methylmalonic acidemia 50. Walter JH, Michalski A, Wilson WM et al. Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 1989; 148: 344. 51. Gonwa TA, Mai ML, Melton LB et al. End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.

Neurological manifestations of methylmalonic acidemia are varied. In infancy and childhood, these features appear to be more consequences of the physiology of the acute episode of shock and diminished cerebral perfusion or hypoglycemia, and especially hyperammonemia with or without cerebral edema, than the metabolic abnormality itself [28]. Developmental impairment is evident in most patients in infancy, but in some this may be more 22 Methylmalonic acidemia A B C D apparent than real; evidence of severe chronic disease and extreme hypotonia, both of which interfere with motor development.

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