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Bile acid CoA ligase deficiency and defective amidation
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.
ORPHA:276066Classification level: Disorder
- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: K76.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence is unknown. Only 8 cases have been reported.
Patients present with a history of neonatal cholestasis, fat and fat-soluble vitamin malabsorption (rickets or bleeding secondary to hypoprothrombinemia) and growth failure.
Several mutations in the bile acid-CoA ligase gene have been found in most patients with this defect.
The mode of transmission of these mutations is not known.
- Summary information
- Greek (2011, pdf)