trifunctional protein deficiency (TFP deficiency)
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Genetics
- biochemically, TFP deficiency is loss of all 3 enzyme activities of the TFP complex (mitochondrial trifunctional enzyme complex)
Clinical manifestations
- variable
- hypoglycemia
- cardiomyopathy
- sudden death
- phenotypes with mainly hepatic & neuromyopathic involvement can also be distinguished
Laboratory
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/609015
- ↑ Orii KE, Aoyama T, Wakui K et al Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. Hum Mol Genet. 1997 Aug;6(8):1215-24. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9259266