Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

Journal of inherited metabolic disease - 1 May 2012

Chong Catherine P K, Mills Philippa B, McClean Patricia, Gissen Paul, Bruce Christopher, Stahlschmidt Jens, Knisely A S, Clayton Peter T

Abstract excerpt

Born at 27 weeks gestation, a child of consanguineous parents of Pakistani origin required prolonged parenteral nutrition. She developed jaundice, with extensive fibrosis and architectural distortion at liver biopsy; jaundice resolved with supportive care. Serum γ-glutamyl transpeptidase values were within normal ranges. The bile acids in her plasma and urine were >85% unconjugated (non-amidated). Two genes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bile Acids and Salts
Share to Coenzyme A Ligases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Consanguinity

Share to DNA Restriction Enzymes

Share to Fatty Acid Transport Proteins

Share to Gas Chromatography-Mass Spectrometry

Share to Metabolism, Inborn Errors

Share to Pakistan

Source

Identifiers

PMID: 22089923
DOI: 10.1007/s10545-011-9416-3

Genes

ABCB11
BAAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.PMID 22089923Read ↗

Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.Semantic proximity Read ↗

Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases.Semantic proximity Read ↗

Genetic defects in hepatobiliary transport.Semantic proximity Read ↗

Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.Semantic proximity Read ↗

Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhood.Semantic proximity Read ↗

[Childhood cholestasis and bile transporters].Semantic proximity Read ↗

A Novel Homozygous HSD3B7 Frameshift Variant Causing Congenital Bile Acid Synthesis Disorder Type 1 Presenting in Mid-Childhood with Malabsorption-Dominant Phenotype and Renal Microcysts: A Case ReportSemantic proximity Read ↗

[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].Semantic proximity Read ↗

Evolutionary Analysis of Bile Acid-Conjugating Enzymes Reveals a Complex Duplication and Reciprocal Loss HistorySemantic proximity Read ↗

Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.Semantic proximity Read ↗

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype.Semantic proximity Read ↗

Cholestasis: the ABCs of cellular mechanisms for impaired bile secretion--transporters and genes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.