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Trifunctional Protein Deficiency With Myopathy And Neuropathy MeSH Supplementary Concept Data 2022


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 Number
0
Heading Mapped to
*Lipid Metabolism, Inborn Errors
*Cardiomyopathies
*Nervous System Diseases
*Rhabdomyolysis
*Mitochondrial Myopathies
Mitochondrial Trifunctional Protein / *deficiency
Frequency
58
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
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