Trifunctional Protein Deficiency With Myopathy And Neuropathy

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

Also Known As:

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Mitochondrial Myopathies: 872
      - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Cardiomyopathies: 19128
    - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Mitochondrial Myopathies: 872
      - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
- Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Rhabdomyolysis: 5061
    - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
  - Mitochondrial Myopathies: 872
    - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Alcohol Oxidoreductases: 56
      - NAD (+) and NADP (+) Dependent Alcohol Oxidoreductases
        3-Hydroxyacyl CoA Dehydrogenases
        Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase: 12
        Mitochondrial Trifunctional Protein: 61
        Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
  - Transferases: 6589
    - Acyltransferases: 374
      - Acetyl-CoA C-Acyltransferase: 27
        Mitochondrial Trifunctional Protein: 61
        Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
  - Lyases: 637
    - Carbon-Oxygen Lyases
      - Hydro-Lyases: 266
        Enoyl-CoA Hydratase: 61
        Mitochondrial Trifunctional Protein: 61
        Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
  - Multifunctional Enzymes: 108
    - Mitochondrial Trifunctional Protein: 61
      - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Membrane Proteins: 10078
    - Mitochondrial Trifunctional Protein: 61
      - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184
  - Mitochondrial Proteins: 1823
    - Mitochondrial Trifunctional Protein: 61
      - Trifunctional Protein Deficiency With Myopathy And Neuropathy: 184

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