FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 311:1015-1018 October 18, 1984 Number 16 Next

	Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Abstract

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is usually considered to be a serious, often life-threatening disease. However, through routine screening of urine in neonates or screening of siblings of clinically affected neonates, we have identified eight children who have a benign clinical variant of this disorder. Their urinary methylmalonic acid levels have ranged from 1.0 to 3.4 mg per milligram of creatinine, with serum values ranging from an undetectable level to 1.7 mg per deciliter (130 nmol per liter). The children have not received dietary or vitamin therapy, have had normal growth and development (age range, 18 months to 13 years), and have performed as well as their unaffected siblings on psychometric testing. These children have no evidence of a deficiency of vitamin B12, which acts as a cofactor with methylmalonyl-CoA mutase, and they did not respond to the administration of vitamin B12. Two siblings were found by complementation analysis to have a defect in the methylmalonyl-CoA mutase apoenzyme; complementation analysis was not performed on the other patients. We conclude that the clinical spectrum of methylmalonyl-CoA mutase deficiency is wider than indicated by previously reported cases.

This article has been cited by other articles:

• Tarini, B. A., Christakis, D. A., Welch, H. G. (2006). State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False-Positive Results. Pediatrics 118: 448-456 [Abstract] [Full Text]  
• Monsen, A.-L. B., Refsum, H., Markestad, T., Ueland, P. M. (2003). Cobalamin Status and Its Biochemical Markers Methylmalonic Acid and Homocysteine in Different Age Groups from 4 Days to 19 Years. Clin. Chem. 49: 2067-2075 [Abstract] [Full Text]  
• Ames, B. N, Elson-Schwab, I., Silver, E. A (2002). High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and polymorphisms. Am. J. Clin. Nutr. 75: 616-658 [Abstract] [Full Text]  
• Monsen, A.-L. B., Ueland, P. M., Vollset, S. E., Guttormsen, A. B., Markestad, T., Solheim, E., Refsum, H. (2001). Determinants of Cobalamin Status in Newborns. Pediatrics 108: 624-630 [Abstract] [Full Text]  
• Barbas, C., Adeva, N., Aguilar, R., Rosillo, M., Rubio, T., Castro, M. (1998). Quantitative Determination of Short-Chain Organic Acids in Urine by Capillary Electrophoresis. Clin. Chem. 44: 1340-1342 [Full Text]  
• Ozand, P. T., Gascon, G. G. (1991). Topical Review Article: Organic Acidurias: A Review. Part 1. J Child Neurol 6: 196-219 [Abstract]