mitochondrial trifunctional protein deficiency
Findings
No curated finding names mitochondrial trifunctional protein deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..
Definition from the Mondo Disease Ontology (MONDO:0012172), read 2026-09-29. CC BY 4.0.
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- Exercise intoleranceHPOHP:0003546
- Very frequent (80% to 99% of cases)
- RhabdomyolysisHPOHP:0003201
- Very frequent (80% to 99% of cases)
- CardiomyopathyHPOHP:0001638
- Frequent (30% to 79% of cases)
- Chronic hepatic failureHPOHP:0100626
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- Decreased patellar reflex
Show the remaining 34
- Hypoketotic hypoglycemiaHPOHP:0001985
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HADHBHGNC:4803
- Definitive · ClinGen · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- HADHAHGNC:4801
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: mitochondrial trifunctional protein deficiency
- Also called
- TFP deficiencyTFPD