In a previous post (From theory to bedside practice | gutsandgrowth), I reviewed an article which described the diagnosis of a rare inborn error of bile acid metabolism –bile acid CoA:amino acid N-acyl transferase (BAAT). A new report (Hepatology 2015; 61: 268-74) describes treatment and outcome in five patients with BAAT (I am thankful for acronyms!).
Treatment with 15 mg/kg of glycocholic acid (GCA) improved duodenal bile acid concentrations (to 23.3 ± 19.1 mmol/L). Patients also received oral vitamin D2 (1000 IU/kg) and tocopherol (100 IU/kg). With the combination of GCA and fat soluble vitamin provision, there was improvement in growth (3/3 prepubertal patients) and in fat-soluble vitamin absorption.
Bottomline: In patients with neonatal cholestasis growth failure, or fat-soluble vitamin deficiencies, identification of BAAT with fast atom bombardment mass spectrometry allows for institution of GCA which is efficacious and safe.
Also noted: FDA approves Cholbam to treat rare bile acid synthesis disorders FDA announcement 3/17/15, an excerpt: the first FDA approved treatment for pediatric and adult patients with bile acid synthesis disorders due to single enzyme defects, and for patients with peroxisomal disorders (including Zellweger spectrum disorders). Patients with these rare, genetic, metabolic conditions exhibit manifestations of liver disease, steatorrhea (presence of fat in the stool) and complications from decreased fat-soluble vitamin absorption. Individuals with these rare disorders lack the enzymes needed to synthesize cholic acid, a primary bile acid normally produced in the liver from cholesterol. The absence of cholic acid in these patients leads to reduced bile flow, accumulation of potentially toxic bile acid intermediates in the liver (cholestasis), and malabsorption of fats and fat-soluble vitamins in the diet. If untreated, patients fail to grow and can develop life-threatening liver injury. Cholbam is approved as an oral treatment for children aged three weeks and older, and adults.