M R Baumgartner
Affiliation: University of Zurich
- Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyMatthias R Baumgartner
Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Zurich, Switzerland
Am J Hum Genet 75:790-800. 2004..We show that MCCA-R385S, but not other MCCA missense alleles, reduces the MCC activity of cotransfected MCCA-wild-type allele. Our results suggest that MCCA-R385S is a dominant negative allele and is biotin responsive in vivo...
- Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiencyM R Baumgartner
Division of Metabolism and Molecular Pediatrics, University Children s Hospital Zurich, Switzerland
J Inherit Metab Dis 28:301-9. 2005..Evidence is presented that MCCA-R385S is a dominant negative allele leading to biochemical abnormalities and clinical symptoms in heterozygous individuals and that it is responsive to pharmacological doses of biotin in vivo...
- Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcomeT Baykal
Department Nutrition and Metabolism, Children s Hospital, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
J Inherit Metab Dis 28:229-33. 2005..Mutation analysis revealed a homozygous mutation in the splice acceptor site of intron 15 in the MCC beta-subunit. Early-onset severe necrotizing encephalopathy should be included in the differential diagnosis of isolated MCC deficiency...
- Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthaseM R Baumgartner
Department of Pediatrics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Hum Mol Genet 9:2853-8. 2000..This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease...
- The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotinD Friebel
Department of Neuropaediatrics, Children s Hospital, Technical University of Dresden, Dresden, Germany
Neuropediatrics 37:72-8. 2006..Sadly, this patient again also demonstrates that the main determinant of the outcome of even easily treatable metabolic diseases is timely diagnosis...
- Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic strokeL Pinto
Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil
J Inherit Metab Dis 29:205-6. 2006..We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode...
- Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann
Department of General Pediatrics, Ruprecht Karls University Heidelberg, Heidelberg, Germany
J Inherit Metab Dis 30:96-9. 2007..Prompt treatment with PLP in all neonates and infants with epileptic encephalopathy should become mandatory, permitting normal development in at least some of those affected with PNPO deficiency...
- Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann diseaseM R Baumgartner
Department of Pediatrics, Hopital Necker Enfants Malades, Paris, France
Neurology 51:1427-32. 1998..Characterization of the defect in a patient presenting a peripheral neuropathy with atypical features of distal motor involvement mimicking Werdnig-Hoffmann disease...
- The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiencyM R Baumgartner
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
J Clin Invest 107:495-504. 2001..We identify five MCCA and nine MCCB mutant alleles and show that missense mutations in each result in loss of function...
- Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarkerP Paesold-Burda
Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Steinwiesstrasse 75, CH 8032, Zurich, Switzerland
J Inherit Metab Dis 30:896-902. 2007..3 +/- 3.7; range 11.0-19.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders...