Mitochondrial trifunctional protein deficiency

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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Mitochondrial trifunctional protein deficiency?

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Clinical Trials

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