Term Name:	mitochondrial trifunctional protein deficiency 1
Synonyms:	MTPD1
Definition:	A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein.
Ontology:	Human Disease [DOID:0070619]   ( DOID:0070619 )