DISEASES

Disease-gene associations mined from literature

Human genes for mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein deficiency [DOID:0111277]

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.

Synonyms:  mitochondrial trifunctional protein deficiency,  DOID:0111277,  mitochondrial trifunctional protein deficiencies,  MTPD,  TFPD ...