Trifunctional Protein Deficiency With Myopathy And Neuropathy [Supplementary Concept]

An autosomal recessive disorder characterized by decreased activity of 3 mitochondrial enzymes: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase of the MITOCHONRIAL TRIFUCNTIONAL PROTEIN . Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in SUDDEN INFANT DEATH, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Mutations in the HADHA and HADHB genes have been identified. OMIM: 609015

Date introduced: November 5, 2012

MeSH Unique ID: C566945

Heading Mapped to:

• Lipid Metabolism, Inborn Errors
• Cardiomyopathies
• Nervous System Diseases
• Rhabdomyolysis
• Mitochondrial Myopathies
• Mitochondrial Trifunctional Protein/deficiency

Entry Terms:

• Mitochondrial Trifunctional Protein Deficiency
• LCHAD Deficiency
• Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
• TFP Deficiency
• Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency
• 3-Hydroxyacyl-CoA Dehydrogenase, Long Chain, Deficiency
• Trifunctional Protein Deficiency
• Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency
• Trifunctional Protein Deficiency, Type 2
• Trifunctional Protein Deficiency, Type 1
• Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency