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Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
TLDR
More cases of inborn errors of metabolism are diagnosed by screening with tandem mass spectrometry than are diagnosed clinically, and which patients with disorders diagnosed by such screening would have become symptomatic if screening had not been performed.
Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders.
TLDR
The features of FAOD are reviewed, methods of investigation including metabolite analyses in body fluids, in vitro oxidation rates and acylcarnitine profiling studies, enzymatic and mutational tests, and genotype-phenotype correlation, treatment and monitoring options are critically evaluated.
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.
TLDR
A study of unselected patients with MCAD deficiency from a defined population shows not only a substantial risk of death, but also of long term morbidity.
Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders.
TLDR
While in vitro acylcarnitine profiling is useful for the diagnosis of FAO deficiencies, abnormal profiles do not exclusively indicate these disorders, and primary defects of the RC remain a possibility.
The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria.
Letter: Patient with defect in leucine metabolism.
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