Maternal 3-methylcrotonyl-coenzymeA carboxylase deficiency in Costa Rica
DOI:
https://doi.org/10.51481/amc.v56i4.857Keywords:
newborn screening, 3-methylcrotonylcoenzymeA carboxylase, 3-hydroxy-isovaleryl carnitine, leucine, mass spectrometryAbstract
Isolated 3-methylcrotonyl-coenzymeA carboxylase deficiency is an autosomal recessive disorder of leucine catabolism with considerable phenotypic heterogeneity. It is one of the most common inborn errors of metabolism with an incidence as high as 1 in 36.000 newborns. Women presenting this deficiency have been identified only by detection of abnormal results in newborn screening samples of their healthy babies.
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency should be taken into account when assessing a positive newborn screening result for 3-hydroxy-isovaleryl carnitine. The question of whether or not to provide periodic medical examination to children diagnosed with 3-methylcrotonyl-coenzymeA carboxylase deficiency in Costa Rica should also be addressed, since there are clinical studies sustaining that most of these patients remain asymptomatic.
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References
Sweetman L y Williams JC. Branched chain organic acidurias. En: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7a edición. New York: McGraw-Hill;1995,1387-1422.
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat 2006;27:748-759.
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, et al. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis 2012;7:31.
Gibson KM, Elpeleg ON, Morton DH, Wappner RS. Disorders of leucine metabolism. En: Blau N, Duran M, Blaskovics ME, Gibson KM, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, 2a edición. Berlin: Springer;2003. 165-190.
Eminoglu FT, Ozcelik AA, Okur I, Tumer L, Biberoglu G, Demir E, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. J Child Neurol 2009; 24:478-481.
Morscher RJ, Grünert SC, Bürer C, Burda P, Suormala T, Fowler B, et al. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Mol Genet Metab 2012; 105:602-606.
Rashed MS, Bucknall MP, Little D, Awad A, Jacob M, Alamoudi M, et al. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 1997; 43:1129-1141.
Tanaka K, West-Dull A, Hine DG, Lynn TB, Lowe T. Gas-Chromatographic method of analysis for urinary organic acids. II. Description of the Procedure, and Its Application to Diagnosis of Patients with Organic Acidurias. Clin Chem 1980; 26:1839-1853.
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, et al. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 2001; 107:495-504.
Wolfe LA, Finegold DN, Vockley J, Walters N, Chambaz C, Suormala T, et al. Potential misdiagnosis of 3-methylcrotonyl-CoA carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics 2007;120:1135-1340.
Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 1998; 132:519-523.
Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat
;26:164
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