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trifunctional protein deficiency (TFP deficiency)

Genetics: - biochemically, TFP deficiency is loss of all 3 enzyme activities of the TFP complex (mitochondrial trifunctional enzyme complex) Clinical manifestations: 1) variable 2) hypoglycemia 3) cardiomyopathy 4) sudden death 5) phenotypes with mainly hepatic & neuromyopathic involvement can also be distinguished Laboratory: - HADHA gene mutation - HADHB gene mutation

Related

mitochondrial trifunctional enzyme complex (trifunctional protein complex, TFP complex, trifunctional enzyme)

General

enzyme deficiency

Database Correlations

OMIM 609015

References

  1. OMIM :accession 609015
  2. 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: 9259266