Laboratory Medicine | Core Laboratory
Metabolic Genetics Section
- Dennis J. Dietzen, Ph.D., Assistant Director h | c
The Metabolic Genetics Section of the Core Laboratory at St. Louis
Children's Hospital offers tests designed to screen for a range of
genetic metabolic diseases.
Amino acid and organic acid analyses are frequently performed
together on specimens obtained from children suspected of having any
of dozens of inborn errors of amino acid, organic acid, fatty acid,
and carbohydrate metabolism. Amino acids are analyzed by high
performance liquid chromatography, yielding quantitative results on
42 constituents. Organic acids are analyzed by gas chromatography /
mass spectroscopy, yielding semiquantitative results on any of
hundreds of potentially diagnostically important constituents which
might be found in abnormal amounts.
The Laboratory has been actively involved in research / development
of new technologies of special interest in pediatric medicine.
These include development of efficient measurement of glycolic and
glyceric acids in the urine of hyperoxaluria patients, quantitation
of oxalic acid absorption, and electrophoretic methods to study the
enzymology of galactosemia.
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SCHOOL OF MEDICINE
