Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitine...

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Bibliographic Details
Main Authors: Donna B. Raval, Kristina P. Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura H. Kofman, Brendan Lanpher, Natalie Hauser, Debra S. Regier
Format: Article
Language:English
Published: Elsevier 2017-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
LCHAD
Long-chain hydroxyacyl-CoA dehydrogenase deficiency
Umbilical cord blood
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300854

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