Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

Abstract Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta‐oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was compli...

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Bibliographic Details
Main Authors: Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:JIMD Reports
Subjects:
intronic variant
nephrotic syndrome
RNAseq
trifunctional protein deficiency
Undiagnosed Diseases Network
Online Access:https://doi.org/10.1002/jmd2.12459
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https://doi.org/10.1002/jmd2.12459

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