Bile Acid Conjugation Defect 1

Alternative Names

  • BACD1
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

619232

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q31.1

Description

Bile acid conjugation defect-1 (BACD1) is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins. Vitamin D deficiency causes rickets with variable growth deficiency, and vitamin K deficiency causes a coagulopathy with decreased production of vitamin K-dependent clotting factors. More variable features may include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619232.1.1Saudi ArabiaMaleYesYes Hepatomegaly; Elevated circulating aspar...NM_001701.4:c.1156G>AHomozygousAutosomal, RecessiveSetchell et al. 2013 Patient from 'family...
619232.1.2Saudi ArabiaFemaleYesYes Rickets; Decreased body weightNM_001701.4:c.1156G>AHomozygousAutosomal, RecessiveSetchell et al. 2013 Sister of 619232.1.1
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