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    A Quick Guide to Metabolic Disease Testing Interpretation

    A Quick Guide to Metabolic Disease Testing Interpretation

    - Testing for Inborn Errors of Metabolism

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    • Format
    • Bog, paperback
    • Engelsk

    Beskrivelse

    Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM.

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    Detaljer
    • SprogEngelsk
    • Sidetal220
    • Udgivelsesdato04-08-2020
    • ISBN139780128169261
    • Forlag Academic Press Inc
    • FormatPaperback
    Størrelse og vægt
  • Vægt320 g
    • coffee cup img
    10 cm
    book img
    15,2 cm
    22,9 cm

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    Biotin Mass spectrometry Mat Metabolic Diseases Chromatography Amino acids Ammonia Arginine Glutathione mma Asa Interferences Methodologies FAH LPI MCAD Lactate Fatty acid oxidation Iva Inborn errors of metabolism 5-fluorouracil 2-methylbutyrylglycinuria 3MCC deficiency 3-methylglutaconyl-CoA hydratase deficiency 4-hydroxybutyric aciduria 3MGA 5-oxoproline 3-methylcrotonyl CoA carboxylase deficiency 3-methylcrotonylglycinuria 4-hydroxyphenylpyruvate dioxygenase argininosuccinic aciduria argininosuccinic acid lyase deficiency alpha-methylacetoacetic aciduria ASL deficiency Aspartoacylase deficiency ASPA Deficiency Barth Syndrome BCKD deficiency arginase aminoacylase 2 deficiency Canavan"s Disease carbamoylphosphate synthetase deficiency Cationic Amino Acid Transporter biotinidase deficiency carnitine uptake defect (CUD) BKT argininosuccinase deficiency Costeff optic atrophy carnitine palmitoyltransferase 1A deficiency cobalamin defects CPT2 deficiency citrin deficiency dihydropyrimidinuria branched-chain ketoaciduria CPT1A DPD deficiency branched-chain alpha-ketoacid dehydrogenase deficiency carnitine shuttle D-2-hydroxyglutaric aciduria (D2HGA) Types I (D2HGA1 OMIM # 600721) and II (D2HGA2 OMIM # 613657) carnitine-acylcarnitine carrier deficiency (CACT deficiency) dibasic aminoaciduria II Citrulline citrullinemia familial protein intolerance familial pyrimidinuria combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD OMIM # 615182) congenital lysinuria glutaric aciduria CPS1 deficiency gamma-glutamylcysteine glutaric acidemia type 2 HHH syndrome fumarylacetoacetate hydrolase glutaryl-CoA dehydrogenase deficiency hepatorenal tyrosinosis holocarboxylase synthetase deficiency DPYD deficiency isovaleryl-CoA dehydrogenase deficiency ethylmalonic-adipic aciduria isoleucine degradation isovaleric acidemia Methylmalonic Aciduria leucine degradation gamma-hydroxybutyric acidemia mitochondrial trifunctional protein (MTFP) deficiency GA2 HADH deficiency hyperornithinemia-hyperammonemia-homocitrullinemia syndrome hyperphenylalaninemia L-2-hydroxyglutaric aciduria (L2HGA OMIM# 236792) hereditary thymine-uraciluria LCHAD deficiency methylmalonic mutase deficiency M/SCHAD deficiency MSUD Maple Syrup Urine Disease mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency mitochondrial acetoacetyl-CoA thiolase deficiency Medium Chain Fatty Acids

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