The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas...

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Bibliographic Details
Main Authors: Carmen R Vargas, Marion Deon, Angela Sitta, Daniella M Coelho, Patricia D Silva, Larissa Murussi, Laura V Fleith, Carolina Crespo, Moacir Wajner, Maria Teresa V Sanseverino
Format: Article
Language:English
Published: Sociedade Brasileira de Patologia Clínica 2020-05-01
Series:Jornal Brasileiro de Patologia e Medicina Laboratorial
Subjects:
mitochondrial β-oxidation defects
MCADD
fasting
acylcarnitines
organic acids
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442020000100702&tlng=pt

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442020000100702&tlng=pt

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