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 ...