mitochondrial trifunctional protein deficiency
MeSH: C566945ORPHA: 746
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with mitochondrial trifunctional protein deficiency, sourced from HPO and Orphanet clinical annotations.
AreflexiaRhabdomyolysisExercise intoleranceHypotoniaLethargyMuscle weaknessFailure to thrive in infancyCongestive heart failureCardiomyopathyLeft ventricular hypertrophyHypoketotic hypoglycemiaPoor suckHypocalcemiaMuscle spasmDifficulty climbing stairsSkeletal myopathyDiffuse hepatic steatosisLower limb muscle weaknessFeeding difficulties in infancyProgressive distal muscle weaknessPeripheral neuropathyDecreased patellar reflexChronic hepatic failurePigmentary retinopathyHypoparathyroidismSeizureComaMotor delayCholestasisMitral regurgitationPes cavusRespiratory insufficiencyFrequent fallsRespiratory failureGeneralized muscle weaknessMyalgiaBabinski signTricuspid regurgitationEquinovarus deformityEquinus calcaneusArrhythmiaTip-toe gaitPrimitive reflexDistal peripheral sensory neuropathySensorimotor neuropathyRigors
Classification & Codes
MeSH Code
C566945Orphanet Code
ORPHA:746mitochondrial trifunctional protein deficiency
| MeSH | C566945 |
| Orphanet | ORPHA:746 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO