Search Ontology:
Human Disease

mitochondrial trifunctional protein deficiency

Term ID
DOID:0111277
Synonyms
  • MTPD
  • TFP deficiency
  • TFPD
Definition
A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. (3)
References
Ontology
Human Disease   ( DOID:0111277 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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