TFP Mangel
Engelsk navn: Mitochondrial trifunctional protein deficiency
Engelske synonym: TFP deficiency,TFPD
Definisjon
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
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
