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 that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. (3)

References

• GARD:3684
• MESH:C566945
• NCI:C98991
• OMIM:609015
• ORDO:746
• SNOMEDCT_US_2023_03_01:237999008
• UMLS_CUI:C1969443

Ontology

Human Disease   ( DOID:0111277 )