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Isovaleric acidemia: an integrated approach toward predictive laboratory
medicine
Dercksen, M.
Publication date
2014
Link to publication
Citation for published version (APA):
Dercksen, M. (2014). Isovaleric acidemia: an integrated approach toward predictive laboratory
medicine.
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i
Abbreviations
3-HIVA 3-Hydroxyisovaleric acid 3-MCC 3-Methylcrotonyl carboxylase ACAD Acyl-CoA dehydrogenase
AMDIS Automated Mass Spectral Deconvolution and Identification System ARG Arginase
ASL Argininosuccinate lyase ASS Argininosuccinate synthase BCAA Branched chain amino acids
BCDAK Branched chain keto acid dehydrogenase CBC Complete blood count
cDNA Complementary DNA CNS Central nervous system CoA Coenzyme A
CONCA Concurrent class analysis
CPS Carbamyl phosphate synthetase 1 CRAT Carnitine acetyltransferase DCPIP 2,6-Dichlorophenolindophenol DGLA Dihomo-gamma-linolenic acid DHA Docosahexaenoic acid DNA Deoxyribonucleic acid
DPCA Disjoint principal component analysis EFA Essential fatty acid
EFAD Essential fatty acid deficiency
E-IMD European registry and network for intoxication-type metabolic disorders
EPA Eicosapentaenoic acid ES Effect size
ESI Electrospray Ionization
ESI-MS Electrospray Ionization Mass Spectrometry ETF Electron transfer flavoprotein
FAD Flavin adenine dinucleotide FID Flame ionization detector GC Gas chromatography
GC-MS Gas chromatography Mass spectrometry gDNA Genomic DNA
ii
HFBA Heptafluorobutyric acid HGMD Human gene mutation database
HPLC High performance liquid chromatography IBCAD Isobutyryl-CoA dehydrogenase
IBCADD Isobutyryl-CoA dehydrogenase deficiency IEM Inborn errors of metabolism
IMD Inborn metabolic disease IVA Isovaleric acidemia
IVD Isovaleryl-CoA dehydrogenase K2CO3 Potassium carbonate
Ki Inhibition constant
Km Substrate concentration at half the maximum velocity KOH Potassium hydroxide
LCAD Long chain acyl-CoA dehydrogenase LOD Limit of detection
LOQ Limit of quantitation
MADD Multiple acyl-CoA dehydrogenase
MBCAT Mitochondrial branched chain aminotransferase MCAD Medium chain acyl-CoA dehydrogenase
MCADD Medium-chain acyl-CoA dehydrogenase deficiency MMA Methylmalonic acidemia / methylmalonic acid MMM Methymalonyl-CoA mutase
MRM Multiple reaction monitoring mRNA Messenger RNA
MS Mass Spectrometry
MS/MS Tandem mass spectrometry NAD Nicotinamide adenine dinucleotide NAG N-acetylglutamate
NAGS N-acetylglutamate synthase NBS New born screening
NMR Nuclear Magnetic Resonance OCD Oxodicarboxylate carrier OTC Ornithine transcarbamylase PA Propionic acidemia
PCA Perchloric acid (Chapter 6)
iii PCC Propionyl-CoA carboxylase
PLS-DA Partial least-squares-discriminant analysis PUFA Polyunsaturated fatty acid
RCDs Respiratory chain defects
SBCAD Short-branched chain acyl-CoA dehydrogenase SCAD Short-chain acyl-CoA dehydrogenase
SCADD Short-chain acyl-CoA dehydrogenase deficiency SL Succinyl-CoA ligase
SUCLA Succinyl-CoA ligase (ADP-forming subunit) TCA Trichloroacetic acid
TL Thiolase
UCDs Urea cycle defects
UPLC Ultra performance liquid chromatography UV Ultra-violet / Ultra-visible
VBA Visual basic applications
VIDs Variables important in discrimination VLCAD Very long chain acyl-CoA dehydrogenase
VLCADD Very long-chain acyl-CoA dehydrogenase deficiency Vmax Maximum velocity
