RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria.
Pediatrics 1981 January
Screening neonates for methylmalonic aciduria is part of routine screening for metabolic disorders in Massachusetts. The process of urine collection by the parent and transmitted to the central screening laboratory was described in a previous publication (Pediatrics 49: 825, 1972). The primary objective of screening for methylmalonic aciduria is to detect methylmalonic acidemia, an inherited organic acid disorder. During the most recent 5 1/2-year period when the sensitive fast blue B stain was used in the analysis, four infants with methylmalonic acidemia were detected among 293,535 screened. Additional infants and children who came to attention because of clinical illness or family study also could be readily detected. Prior to this period, 325,634 neonates had been screened with the aniline-xylose method, which proved to be not sensitive enough for the identification of methylmalonic aciduria. Some affected infants have responded well to therapy and are clinically normal while two have shown poor biochemical response and are developmentally delayed. Four children in two families appear to have a benign variant of methylmalonic acidemia. Based on these studies the observed incidence of methylmalonic acidemia in Massachusetts is 1:48,000. Screening for methylmalonic aciduria may be an appropriate addition to newborn screening programs.
Full text links
Trending Papers
Management of Hemorrhagic Shock: Physiology Approach, Timing and Strategies.Journal of Clinical Medicine 2022 December 30
New antibiotics for Gram-negative pneumonia.European Respiratory Review : An Official Journal of the European Respiratory Society 2022 December 32
Migraine.Annals of Internal Medicine 2023 January 11
How to diagnose iron deficiency in chronic disease: A review of current methods and potential marker for the outcome.European Journal of Medical Research 2023 January 10
New therapies for obesity.Cardiovascular Research 2022 November 31
Diabetic kidney disease in type 2 diabetes: a consensus statement from the Swiss Societies of Diabetes and Nephrology.Swiss Medical Weekly 2023 January 7
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
Read by QxMD is copyright © 2021 QxMD Software Inc. All rights reserved. By using this service, you agree to our terms of use and privacy policy.
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app