mitochondrial trifunctional protein deficiency 1

Term ID

DOID:0070619

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. https://pubmed.ncbi.nlm.nih.gov/12754706/

References

• MIM:609015

Ontology

Human Disease   ( DOID:0070619 )