A groundbreaking gene therapy tested through a UCLA-led clinical trial has received approval from the U.S. Food and Drug ...

If you experience any of these vitamin D deficiency symptoms, you may be among the 35% of U.S. adults deficient in the ...

Rian McCann is almost seven years old. Her parents, Danielle and Frank described her as kind, sassy, smart and above all, resilient. Rian was born with CDKL5 Deficiency Disorder — which prevents her ...

Thus, treating vitamin D deficiency in patients with neurocognitive disorders to an endpoint of 50 ng/mL may be considered. 1 Dana S. Miles, MS, PA-C, CAQ-EM, has been working in emergency medicine as ...

Sulfite oxidase deficiency is a rare, inherited neurometabolic disorder arising from impaired detoxification of sulfite, a by-product of sulfur‐containing amino acid catabolism. The condition is most ...

Upon approval, Rocket has been awarded a priority review voucher, which currently fetch around $200m on the secondary market.

Beta-ketothiolase deficiency is a rare autosomal recessive disorder that disrupts both ketone body utilisation and isoleucine catabolism. Caused by mutations in genes such as ACAT1, which encodes ...

Researchers studying a protein linked to a rare, severe disease have made a discovery that sheds light on how cells meet their energy needs during a severe metabolic crisis. The findings could lead to ...

Six 2026 ACD Fellowship Grantees will spend a year conducting research to advance treatment options for Cerebral ...

Medically reviewed by Patricia Mikula, PharmD Key Takeaways Choline is an essential nutrient needed to make acetylcholine, a ...

Magnesium deficiency is a common problem that may lead to symptoms like eye twitching, numbness, jaw tension, dark under-eye ...

The European Commission has granted marketing authorisation in the European Union (EU) for Ztalmy ® (ganaxolone) oral suspension for the adjunctive treatment of epileptic seizures associated with ...