mitochondrial trifunctional protein deficiency 2

Term ID

DOID:0060999

Synonyms

• MTPD2

Definition

A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. https://pubmed.ncbi.nlm.nih.gov/12754706/

References

• MIM:620300

Ontology

Human Disease   ( DOID:0060999 )