mitochondrial trifunctional protein deficiency 2
MONDO:0958185Mondo
Findings
No curated finding names mitochondrial trifunctional protein deficiency 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Juvenile onset · Neonatal onset · Neonatal death · Childhood onset
HPO, annotations 2026-09-02
Features
21 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.
- Cerebral hemorrhageHPOHP:0001342
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated circulating NT-proBNP concentrationHPOHP:0031185
- 1 of 1 reported patient
- HypotensionHPOHP:0002615
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Left ventricular dilatationHPOHP:4000141
- 1 of 1 reported patient
- Mitral regurgitationHPOHP:0001653
- 1 of 1 reported patient
- Recurrent myoglobinuriaHPOHP:0003652
- 15 of 15 reported patients
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Tricuspid regurgitationHPOHP:0005180
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients
Show the remaining 9
- Peripheral neuropathyHPOHP:0009830
- 7 of 13 reported patients
- Metabolic acidosisHPOHP:0001942
- 3 of 6 reported patients
- HypoglycemiaHPOHP:0001943
- 10 of 21 reported patients
- HyperammonemiaHPOHP:0001987
- 2 of 5 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 7 of 20 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 3 reported patients