MeSH Browser

MeSH Supplementary: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Unique ID: C566945
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C566945
Entry Term(s): 3-Hydroxyacyl-CoA Dehydrogenase, Long Chain, Deficiency; LCHAD Deficiency; Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency; Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency; Mitochondrial Trifunctional Protein Deficiency; TFP Deficiency; Trifunctional Protein Deficiency; Trifunctional Protein Deficiency, Type 1; Trifunctional Protein Deficiency, Type 2
Registry Numbers: 0
Heading Mapped to: *Lipid Metabolism, Inborn Errors; *Cardiomyopathies; *Nervous System Diseases; *Rhabdomyolysis; *Mitochondrial Myopathies; Mitochondrial Trifunctional Protein / deficiency
Frequency: 68
Note: 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 of Entry: 2012/11/05
Revision Date: 2016/05/17

Trifunctional Protein Deficiency With Myopathy And Neuropathy Preferred

Trifunctional Protein Deficiency, Type 2 Narrower

Trifunctional Protein Deficiency, Type 1 Narrower

Trifunctional Protein Deficiency With Myopathy And Neuropathy MeSH Supplementary Concept Data 2024