Benign Methylmalonic Aciduria
- 18 October 1984
- journal article
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 311 (16), 1015-1018
- https://doi.org/10.1056/nejm198410183111604
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.Keywords
This publication has 9 references indexed in Scilit:
- The Natural History of the Inherited Methylmalonic AcidemiasThe New England Journal of Medicine, 1983
- Cobalamin (vitamin B12) deficiency detection by urinary methylmalonic acid quantitationBlood, 1982
- Measurement of methylmalonic acid in urine filter paper specimens by gas chromatographyClinica Chimica Acta; International Journal of Clinical Chemistry, 1981
- Rapid and simplified extraction procedure for gas chromatographic—mass spectrometric profiling of urinary organic acidsJournal of Chromatography B: Biomedical Sciences and Applications, 1978
- Methylmalonic Aciduria without Vitamin B12Deficiency in an Adult SibshipThe New England Journal of Medicine, 1976
- Studies of Methylmalonyl Coenzyme A Carbonylmutase Activity in Methylmalonic Acidemia. I. Correlation of Clinical, Hepatic, and Fibroblast DataPediatric Research, 1975
- Persistent Mild Hyperphenylalaninemia in the Untreated StateThe New England Journal of Medicine, 1971
- Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.Archives of Disease in Childhood, 1967
- Two-way separation of amino acids and other ninhydrin-reacting substances by high-voltage electrophoresis followed by paper chromatographyBiochemical Journal, 1959