There’s good news for people living with carnitine palmitoyltransferase (CPT) deficiency and their caregivers!
In the study, five infants with long-chain fatty acid oxidation disorders (of which CPT is one) who were experiencing cardiomyopathy (heart disease) and had previously been treated with triglyceride oil were switched to triheptanoin. All five of the patients showed improvement in cardiac function.
Improvements were demonstrated as early as two days in some cases, or as late as three weeks in others. It should be noted, however, that some side effects were reported–most notably involving gastrointestinal (GI) issues. After 14 weeks of treatment with triheptanoin, one infant had to discontinue use because of those GI side effects.
While Ultragenyx previously had “orphan drug” status for triheptanoin in the U.S., the European Commission only recently granted the treatment similar status. Hopefully these results will lead to more treatment options for those living with CPT.
Symptoms of CPT I typically include hypoglycemia (low blood sugar), enlarged liver, muscle weakness, and elevated carnitine in the blood. Usually detected as part of newborn screening, CPT I should be treated as early as possible. In some instances, CPT I may not start until adulthood. In those cases, symptoms may include severe and sudden muscle cramping, low blood sugar, and liver dysfunction.
Symptoms of CPT II typically include hypoglycemia (low blood sugar), high ammonia levels, fatigue, vomiting, and seizures, as well as episodes of poor feeding, infection, or diarrhea. These symptoms can progress to the point where someone with CPT II may experience coma, cardiac arrest, brain damage, or death. It is important to treat CPT II as early as possible.
