Titlebook: Laboratory Guide to the Methods in Biochemical Genetics; Nenad Blau,Marinius Duran,K. Michael Gibson Book 20081st edition Springer-Verlag

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Amino Acids,s spectrometry approach is a promising technique which may prove to be superior on the long run. Knowledge of the nutritional state, age of the patient, potentially interfering drugs and other secondary changes is summarized in this chapter as an aid in the diagnosis of primary inherited defects of

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Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine,nosyltransferase, glycine methyltransferase or S-adenosylhomocysteine hydrolase. Those methods that are often available in laboratories involved in the investigation of inborn errors of metabolism namely HPLC and tandem mass spectrometry are described in detail in this chapter.

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,GABA, Homocarnosine, and β-Alanine,anine are quantified as the methylformate-pentafluorobenzyl derivatives employing isotope dilution gas chromatography-mass spectrometry. Conversely, homocarnosine is quantified as the butyl derivative utilizing isotope-dilution liquid chromatography-tandem mass spectrometry.

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Biotinidase,n. Heterozygous individuals show activities intermediate between the deficient and normal activity. The natural substrate of biotinidase is biocytin but it can also act on artificial biotinyl-derivatives. Biotinidase activity in plasma is usually assayed using biotinyl-p-aminobenzoic acid (biotinyl-

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Mucopolysaccharides,lleles should be considered. In this chapter, the dimethylene method as a urinary screening test, electrophoresis and TLC for GAG differentiation and the enzyme assays from leukocytes as well as dried blood will be introduced. Furthermore, pitfalls will be discussed and a short survey of alternative

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Sialic Acid, fibroblasts. This chapter describes the diagnostic workflow in the metabolic laboratory upon the clinical suspicion of a sialic acid metabolism defect. First, qualitative screening for free or bound sialic acid is performed on urine samples using Thin-Layer Chromatography (TLC). The next required s

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