A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

Mitochondrial trifunctional protein (TFP) is a multienzyme complex that catalyzes the last three steps of the β-oxidation cycle of long-chain fatty acids. In the prenatal diagnosis of TFP deficiency, acylcarnitine (AC) analysis has been considered difficult because of limited excretion of long-chain...

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Bibliographic Details
Main Authors: Ryosuke Bo, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Takeshi Taketani, Seiji Fukuda, Seiji Yamaguchi
Format: Article
Language:English
Published: Elsevier 2016-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Prenatal diagnosis
Mitochondrial trifunctional protein (TFP)
Acylcarnitine analysis
Fatty acid oxidation
HADHA gene
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915300550

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