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Mitochondrial trifunctional protein deficiency

Disease definition

A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

ORPHA:746

Classification level: Disorder
  • Synonym(s):
    • TFP deficiency
    • TFPD
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.3
  • OMIM: 609015
  • UMLS: C0342786  C1969443
  • MeSH: D024741
  • GARD: 3684
  • MedDRA: -

Detailed information

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