mitochondrial trifunctional protein deficiency 1
MONDO:0958181Mondo
Findings
No curated finding names mitochondrial trifunctional protein deficiency 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
18 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.
- Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblastsHPOHP:6001024
- 1 of 1 reported patient
- Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblastsHPOHP:6001023
- 1 of 1 reported patient
- Elevated circulating fatty acylcarnitine concentrationHPOHP:0045045
- 12 of 12 reported patients
- Feeding difficultiesHPOHP:0011968
- 9 of 10 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 7 of 8 reported patients
- HypotoniaHPOHP:0001252
- 14 of 17 reported patients
- Peripheral neuropathyHPOHP:0009830
- 11 of 14 reported patients
- AreflexiaHPOHP:0001284
- 7 of 9 reported patients
- Lactic acidosisHPOHP:0003128
- 13 of 17 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 8 of 11 reported patients
- Failure to thriveHPOHP:0001508
- 7 of 10 reported patients
- LethargyHPOHP:0001254
- 9 of 15 reported patients
Show the remaining 6
- HyperammonemiaHPOHP:0001987
- 8 of 15 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 7 of 15 reported patients
- Muscle spasmHPOHP:0003394
- 5 of 15 reported patients
- CholestasisHPOHP:0001396
- 2 of 15 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 2 of 16 reported patients
- ArrhythmiaHPOHP:0011675
- 2 of 17 reported patients
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.