Glutaric aciduria type 1 (GA1) is an inherited metabolic disorder. It results from an enzyme deficiency that prevents the body from breaking down some amino acids. This causes a buildup of toxic ...

A rare genetic disorder, trimethylaminuria, causes babies to emit a strong fishy odour, baffling parents and doctors. This ...

In an analysis of the metabolic profiles of healthy American babies, researchers found surprising differences among ethnic groups which may help make screening for inherited metabolic disorders, ...

A Dallas scientist has been recognized by the American Heart Association for uncovering how a gene can fatten livers while ...

SAN DIEGO, April 04, 2024 (GLOBE NEWSWIRE) -- Travere Therapeutics, Inc. (TVTX), today announced that the Company will present eight posters in classical homocystinuria (HCU) at Society for Inherited ...

Penn and CHOP researchers want to develop urea cycle disorder treatments using CRISPR gene-editing therapy. Get unlimited access to Inquirer.com and The Inquirer App, plus 5 articles each month to ...

Advisory Committee meeting would no longer be required, which was previously tentatively scheduled for October 9. The previously announced Prescription Drug User Fee Act target action date remains on ...

A copy of the poster presentation from the 2023 SIMD Meeting is available on Acer’s website at: https://www.acertx.com/wp-content/uploads/2023/03/2023-SIMD-DCE ...