Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
You wake up from a full night's sleep. You begin your daily routine: Get dressed, brush your teeth, comb your hair... and suddenly you have no more energy to do anything…
Carnitine palmitoyltransferase II deficiency (CPT II) is a long-winded way of describing a fatty acid oxidation disorder that prevents the body from using fat. It's caused by enzymes that aren't properly functioning,…
If you are one in 1.3 million people, you might be born with a mutation in your CPS1 gene, causing you to have carbamoyl phosphate synthetase 1 deficiency or CPS1D.…
There's good news for people living with carnitine palmitoyltransferase (CPT) deficiency and their caregivers! Ultragenyx recently released data from an open-label study of the treatment triheptanoin. In the study, five infants…
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