TFP Mangel

Engelsk navn: Mitochondrial trifunctional protein deficiency
Engelske synonym: 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..

Fra Orphanet

ORPHA: 746
Klassifiseringsnivå: Disorder
ICD-10: G71.3

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