Mitochondrial trifunctional protein deficiency
Synonyms: TFP deficiency | TFPD
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..
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Mitochondrial trifunctional protein deficiency?
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