Rapid Diagnosis of Methylmalonic and Propionic Acidemias
Open Access
- 1 November 2001
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 47 (11) , 2040-2044
- https://doi.org/10.1093/clinchem/47.11.2040
Abstract
Methylmalonic acidemias (MMAs) and propionic acidemias (PAs) comprise a group of congenital disorders of branched-chain amino acid metabolism (1). PA is caused by deficiency of propionyl-CoA carboxylase, whereas MMA results from deficiency of either methylmalonyl-CoA mutase or defects in the production of adenosylcobalamin. Deficiency of vitamin B12, a cofactor for methylmalonyl-CoA mutase, will also produce signs and symptoms consistent with MMA (2)(3)(4). Other biochemically closely related disorders are the cobalamin (Cbl) defects, classified as forms A through G (5). Clinical signs and symptoms include failure to thrive, metabolic acidosis, persistent ketotic episodes, hypoglycemia, hypotonia, hyperammonemia, and neurologic symptoms (6). Children with PA, MMA, or Cbl disorders often present with acute illness as neonates or infants. Treatment of MMA and PA includes careful monitoring and limitation of branched-chain amino acid intake (4) as well as possible supplementation with biotin, vitamin B12, and l-carnitine (7).Keywords
This publication has 15 references indexed in Scilit:
- Mass Spectrometry in the Clinical LaboratoryChemical Reviews, 2001
- Recoveries of Phenylalanine from Two Sets of Dried-Blood-Spot Reference Materials: Prediction from Hematocrit, Spot Volume, and Paper MatrixClinical Chemistry, 2000
- Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid MetabolismJournal of Child Neurology, 1999
- Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)Journal of Inherited Metabolic Disease, 1997
- Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass SpectrometryPediatric Research, 1995
- Organic acid profiling by direct treatment of deproteinized plasma with ethyl chloroformateJournal of Chromatography B: Biomedical Sciences and Applications, 1994
- Identification of urinary acylcarnitines using gas chromatography—mass spectrometry: preliminary clinical applicationsJournal of Chromatography B: Biomedical Sciences and Applications, 1992
- The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometryInternational Journal of Mass Spectrometry and Ion Processes, 1991
- Direct identification of propionylcarnitine in propionic acidaemia: Biochemical and clinical results of oral carnitine supplementationJournal of Inherited Metabolic Disease, 1986
- Urinary Excretion of l-Carnitine and Acylcarnitines by Patients with Disorders of Organic Acid Metabolism: Evidence for Secondary Insufficiency of l-CarnitinePediatric Research, 1984