Catalog

Mitochondrial trifunctional protein deficiency

No MMS code

Link to WHO Definition

Mitochondrial trifunctional protein deficiency – http://id.who.int/icd/entity/1018083832

Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation which main manifestations include hypoketotic hypoglycaemia in infancy or early childhood, along with hypotonia and often fatal hypertrophic cardiomyopathy, or sudden unexplained death. Later onset forms of the disease have been described, with peripheral neuropathy and episodes of rhabdomyolysis or muscular weakness related to myopathy.