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Metadata
ID	DOID:0070619
Name	mitochondrial trifunctional protein deficiency 1
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. https://pubmed.ncbi.nlm.nih.gov/12754706/
Xrefs	MIM:609015
SKOS	exactMatch MIM:609015
Synonyms	MTPD1 [EXACT]
Parent Relationships	is_a mitochondrial trifunctional protein deficiency