Disease - Mitochondrial trifunctional protein deficiency
Definition
A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure.
Acronym
MTPD
Synonyms
Trifunctional protein deficiency
Trifunctional protein deficiency with myopathy and neuropathy
Trifunctional protein deficiency with myopathy and neuropathy
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
