Biochemical findings in common inborn errors of metabolism.
The application of tandem mass spectrometry (MS/MS) to newborn screening has led to the detection of patients with a wider spectrum of inborn errors of metabolism. A definitive diagnosis can often be established early enough to start treatment before symptoms appear. Here, we review common biochemical findings in disorders caused by deficiency of 3-methylcrotonyl-CoA carboxylase, isobutyryl-CoA dehydrogenase, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, 3-ketothiolase, 2-methylbutyryl-CoA dehydrogenase, and medium chain acyl CoA dehydrogenase. The diagnosis of these disorders requires biochemical confirmation by measurement of plasma acylcarnitine profile, urine organic acids, and urine acylglycine profiles followed by measurement of enzyme activity or detection of causative mutations. Early treatment can improve the outcome of these disorders.
Pasquali
Marzia
M
University of Utah, and ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA. pasquam@aruplab.com
Monsen
Gavin
G
Richardson
Leah
L
Alston
Martha
M
Longo
Nicola
N
D001774:Blood Chemical Analysis; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D015997:Neonatal Screening