The study details the connection between SCARB2 deficiency and gastrointestinal dysfunction, revealing that the loss of SCARB2 leads to alterations in bile acid metabolism and dysbiosis in the gut ...

Fewer than half of patients with FIC1 deficiency have their native liver at age 18. The number of PPTMs did not reliably predict the phenotype. However, sBA concentrations at baseline and after SBD ...

Asklepion Pharmaceuticals, LLC. today announced that the U.S. Food and Drug Administration (FDA) approved CHOLBAM™ (cholic acid) as a once-daily treatment for cholic acid deficiency in bile acid ...

The constitutive biochemical, cellular, and physiological function of FIC1 is currently unknown. Speculations are based on the clinical and biochemical findings in FIC1 disease patients, the cellular ...

Bile acid metabolism disorders encompass a range of rare, yet clinically significant, genetic conditions that disrupt the normal synthesis and regulation of bile acids by the liver. These conditions, ...

Whether it’s constipation, a leaky bladder or a strange odor, doctors have seen nearly every health issue there is. When it comes to talking to our doctors about our strange symptoms, however, many of ...