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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Mutations in both have been documented [11, 13]. All of the methylmalonic acidemias reflect defective activity of methylmalonyl CoA mutase [14]. In inherited defects of the apoenzyme and in abnormalities in coenzyme synthesis, the enzymatic mutase abnormality is evident in tissues, leukocytes, and cultured fibroblasts. The mutase gene has been cloned [15] and mapped to chromosome 6 [16]. Some 200 mutations in the mutase gene have been documented [17–19]. Clinical abnormalities Patients with methylmalonic acidemia usually present first with a typical organic acidemia picture of overwhelming illness very early in life [1–3, 20–23].

Catch up has been observed in patients successfully treated, and the IQ may be normal [23, 28]. The impairment and disability phenotype of 33 patients with isolated methylmalonic acidemia has been set out [29]. Seventeen had lesions in the globus pallidus on magnetic resonance imaging (MRI). Neurological findings, including ataxia, dystonia, dyskinesia, dysarthria, chorea, clonus, extrapyramidal signs, or tremors, were found in a majority (25 out of 33). Impaired balance and coordination were common; almost half had difficulties with bathing or dressing.

Higginbottom MC, Sweetman L, Nyhan WL. A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. N Engl J Med 1978; 299: 317. 7. Barshop BA, Woff J, Nyhan WL et al. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am J Med Genet 1990; 35: 222. 8. Bikker H, Bakker HD, Abeling NGGM et al. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

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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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