RARE DISEASE LEARNING CENTERS ++

RARE DISEASE LEARNING CENTERS Rett Syndrome https://checkrare.com/rett-syndrome/ Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome. Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency https://checkrare.com/aromatic-l-amino-acid-decarboxylase-aadc-deficiency/ First characterized 30 years ago, aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.