Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report

Abstract

BACKGROUND Inborn error of bile acid synthesis type 4 is a peroxisomal disease with impaired bile acid synthesis caused by a-methylacyl-CoA racemase ( AMACR ) gene mutation. The disease is usually found in children with mild to severe liver disease, cholestasis and poor fat-soluble vitamin absorption. At present, there is no report of inborn errors of bile acid synthesis type 4 in adults with liver disease and poor fat-soluble vitamin absorption. CASE SUMMARY A 71-year-old man was hospitalized in our department for recurrent liver dysfunction. The clinical manifestations were chronic liver disease and yellow skin and sclera. Serum transaminase, bilirubin and bile acid were abnormally increased; and fat-soluble vitamins decreased. Liver cirrhosis and ascites were diagnosed by computed tomography. The patient had poor coagulation function and ascites and did not undergo liver puncture. Genetic testing showed AMACR gene missense mutation. The patient was diagnosed with inborn error of bile acid synthesis type 4. He was treated with ursodeoxycholic acid, liver protection and vitamin supplementation, and jaundice of the skin and sclera was reduced. The indicators of liver function and the quality of life were significantly improved. CONCLUSION When adults have recurrent liver function abnormalities, physicians should be alert to genetic diseases and provide timely treatment.

Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation

“…Interestingly, Wang et al reported a 71-year-old male with jaundice and the absence of seizures, which contradicts the general ideology that neurological symptoms are exclusive to adult patients with AMACR deficiency [ 2 ].…”

“…In a case by Setchell et al, chronic supplementation of cholic acid reverted liver enzymes back to normal and prevented future progression of symptoms [ 11 ]. Since malabsorption of these vitamins is a feature of this disease, supplementation of the deficient fat-soluble vitamins is a crucial pillar in the treatment strategy [ 2 , 11 , 14 ].…”

“…A diagnosis of BASD type 4 can be supported by a variety of diagnostic tools such as LFTs, pristanic and phytanic acid levels, and urine mass spectrometry [2,9,13]. The most prevalent findings in pediatric patients with AMACR deficiency are elevated pristanic acid levels, which were reported in 15 (67%) of the cases, as well as elevated LFTs in 10 (44%) of the cases [11,[14][15][16]].…”

“…Clinical findings include normal gamma-glutamyl transferase (GGT) with cholestasis, absence of pruritis, as well as lipid and fat-soluble vitamin malabsorption [ 1 ]. Hepatic failure will ensue if these disorders are not detected early [ 2 ].…”

Effect of Weaning at 21 Days of Age on the Content of Bile Acids in Chyme of Cecum

“…BAs are a general term for a group of bile alkanoic acids that are metabolized from cholesterol in the hepatocytes and are the main components of bile [ 13 , 14 ]. The type and structure of BAs vary depending on the animal species, but in pigs, they are mainly α-deoxycholic acid, bilirubin, and goose deoxycholic acid.…”