Creatine Transporter Deficiency (CTD) is a rare, X‐linked metabolic disorder arising from mutations in the SLC6A8 gene, which encodes the creatine transporter protein. This condition disrupts the ...

Pyruvate kinase deficiency, the most common genetic lesion in the glycolytic pathway, leads to chronic hemolytic anemia. Mitapivat, an oral agent, can activate some mutant enzymes and restore red-cell ...

Please provide your email address to receive an email when new articles are posted on . The FDA approved mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency.

SALT LAKE CITY (ABC4) — February is Rare Disease month, and two Utah families are leading the way in newborn screening for Creatine Deficiency. Heidi Wallis spent five and a half years trying to ...