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Techniques for studying hepatic metabolism in vivo
Author(s) -
Leonard J. V.,
Thompson G. N.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01797925
Subject(s) - in vivo , provocation test , glycogen storage disease , metabolism , maple syrup urine disease , inborn error of metabolism , intracellular , biochemistry , enzyme , metabolic disease , liver metabolism , chemistry , medicine , glycogen , pathology , biology , genetics , amino acid , leucine , alternative medicine
Summary Techniques for studying metabolic events in vivo in patients with inborn errors are reviewed. Loading or provocation tests that have been used widely are insensitive and frequently non‐specific. Compounds labelled with stable isotopes can be used to study enzyme kinetics and substrate turnover, providing more detailed and specific information. Intracellular events may be studied using nuclear magnetic resonance spectroscopy. The results using these techniques to study patients with selected inborn errors are discussed, namely phenylketonuria, glycogen storage disease type I and propionic acidaemia.