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TFP/LCHAD Deficiency Due to HADHA Gene Mutation.
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Pediatric Intensive Care Unit, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
JIMD Rep
April 2016
Department of Pathology, University of Utah, Salt Lake City, UT, 84108, USA.
Deficiency of the mitochondrial trifunctional protein (TFP) and long-chain 3-Hydroxy Acyl-CoA dehydrogenase (LCHAD) impairs long-chain fatty acid oxidation and presents with hypoglycemia, cardiac, liver, eye, and muscle involvement. Without treatment, both conditions can be life-threatening. These diseases are identified by newborn screening (NBS), but the impact of early treatment on long-term clinical outcome is unknown.
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