Congenital Bile Acid Synthesis Defect is a kind of acute bile acid synthesis disorder where bile acids are not secreted properly. Lack of the correct production of these bile acids could lead to a range of neurological disorders. This usually happens in new born babies and is characterized by the suppression of fluids from this area and has 2 types.
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT DIAGNOSED?
Diagnosis is based on detection of sulfate and glycosulfate conjugates of 3-beta-hydroxy-delta-5 bile acids, which are the signature metabolites of this bile acid defect, on liquid secondary ionization Diagnosis is based on detection of sulfate and glycosulfate conjugates of 3-beta-hydroxy-delta-5 bile acids, which are the signature metabolites of this bile acid defect, on liquid secondary ionization mass spectrometry (LSIMS) analysis of urine. Gas chromatography - mass spectrometry (GC-MS) or electroscopy and tandem mass spectrometry may also be used.
Differential diagnoses include progressive familial intrahepatic cholestasis, diseases that present with neonatal cholestasis, which includes alpha-1-antitrypsin deficiency of ZZ phenotype, Alagille syndrome, biliary atresia, cystic fibrosis, and metabolic diseases (tyrosinemia type I, galactosemia, hereditary fructose intolerance) (see these terms), diseases that present with fat and fat-soluble vitamin malabsorption, including other liver diseases, and intestinal disease, or diseases that present with growth failure.
Antenatal diagnosis can be made on embryonic tissue obtained when there has been a previously identified sibling. Urine LSIMS in a suspect infant can confirm the diagnosis in the first neonatal days.
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT TREATED?
The treatment includes intensive drug therapy that aims at correcting this disorder. The baby may also be given some steroids or hormonal therapy for this. In adults, often surgery may be an alternate form of treatment and is followed with rehabilitation therapy.
DID YOU KNOW?
Infants suffering from jaundice should also be checked for this disorder.