Nicola Longo, Cristina Amat Di San Filippo, Marzia Pasquali
Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. This transfer requires enzymes and transporters that accumulate carnitine within the cell (OCTN2 carnitine transporter), conjugate it with long chain fatty acids (carnitine palmitoyl ...
Gary L. Hedlund, Nicola Longo, Marzia Pasquali
Glutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the a...
Marzia Pasquali, Gavin Monsen, Leah D’Aurora Richardson, Martha Alston et al.
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 biochemic...
Kaleigh Bulloch Whitehall, Sarah Rose, Gillian E. Clague, Kirsten Ahring et al.