Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01811429
Reference3 articles.
1. Bartlett, K., Bennett, M. J., Hill, R. P., Lashford, L. S., Pollitt, R. J. and Worth, H. G. J. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.J. Inher. Metab. Dis. 7 (1984) 182
2. Beemer, F. A., Bartlett, K., Duran, M., Ghneim, H. K., Wadman, S. K., Bruinvis, L. and Ketting, D. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.Eur. J. Pediatr. 138 (1982) 351–354
3. Suormala, T., Wick, H., Bonjour, J. P. and Baumgartner, E. R. Rapid differential diagnosis of carboxylase deficiencies and evaluation of biotin responsiveness in a single blood sample.Clin. Chim. Acta 145 (1985) 151–162
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2. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency;Molecular Genetics and Metabolism;2012-04
3. 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria;Atlas of Inherited Metabolic Diseases 3E;2011-12-30
4. Identification of a Novel Mutation in theMCCC2Gene of a Korean Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiency;Laboratory Medicine Online;2011
5. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment;Human Mutation;2006
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