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inborn disorder of bile acid synthesis - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

inborn disorder of bile acid synthesis

MONDO:0019218

Also known as:Bile Acid Synthesis Disordersinborn bile acid biosynthetic process disorderinborn error of bile acid biosynthetic process

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Overview

Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.

Treatments1 FDA approved

Clinical Trials2 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Intrafamilial variability is considerable. A suspicion index for diagnosis has been reported based on clinical and laboratory findings .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

A consensus paper on the diagnostic criteria and management of cerebrotendinous xanthomatosis (CTX) has been published (full text). Suggestive Findings CTX, a lipid storage disease, should be suspected in individuals with the following clinical, laboratory, imaging, and family history findings. Clinical findings • Neonatal cholestasis • Infantile-onset diarrhea • Childhood-onset cataract • Adolescent- to young adult-onset tendon xanthomas • Adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and seizures) Laboratory findings • High plasma and tissue cholestanol concentration • Normal-to-low plasma cholesterol concentration • Markedly decreased formation of chenodeoxycholic acid as a result of impaired primary bile acid synthesis • Increased concentration of bile alcohols and their glyconjugates in bile, urine, and plasma • Increased concentration of cholestanol and apolipoprotein B in cerebrospinal fluid • Increased plasma lactate concentration Table 1. Biochemical Abnormalities in Cerebrotendinous Xanthomatosis

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for inborn disorder of bile acid synthesis, including CHOLIC ACID (CHOLBAM, approved 2015).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 8.

Cerebrotendinous Xanthomatosis: Recommended Surveillance

System/Concern | Evaluation | Frequency

cholestanol levels | Cholestanol plasma concentration | Annually

Neurologic

neuropsychologic issues | Neurologic neuropsychologic eval

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered. Interventions under study include drug therapy and other interventions. Pipeline includes 1 NA. Research is sponsored by a mix of industry and academic institutions.

23 publications have been identified in PubMed for inborn disorder of bile acid synthesis. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (26%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Research summaries	7

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79168

GARD

Genetic and Rare Diseases Info Center

GARD:18949

Questions for Your Care Team

→What are the benefits and potential side effects of CHOLBAM for managing inborn disorder of bile acid synthesis?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Analyte	Source	Concentration
In CTX	Normal Cholestanol	Plasma tissue
Bile alcohols	Urine	14,000±3500 nmol/L
Plasma	≤500-1000x normal	8.48±3.67; Bilateral hyperintensity of the dentate nuclei and cerebral and cerebellar white matter on brain MRI. Additional changes on brain CT and MRI include diffuse brain and cerebellar atrophy, white matter signal alterations, and bilateral focal cerebellar lesions.

GeneReviews

Differential Diagnosis

Selected monogenic disorders that may present with clinical features similar to those of cerebrotendinous xanthomatosis are summarized in . Table 4. Selected Monogenic Disorders in the Differential Diagnosis of Cerebrotendinous Xanthomatosis

Feature	Genetic Disorder	Gene(s)	MOI
diarrhea	Congenital diarrhea (OMIM PS214700)	DGAT1 EPCAM GUCY2C MYO5B NEUROG3 PERCC1 PLVAP SLC26A3 SLC9A3 SPINT2 STX3 WNT2B	ARAD1 Neonatal cholestasis2
Xanthomas	Sitosterolemia. Note: Tendon xanthomas or tuberous (i.e., planar) xanthomas can occur in childhood in unusual locations (heels, knees, elbows, buttocks).	ABCG5 ABCG8 Familial hypercholesterolemia (FH). Note: Common locations of xanthomas incl around eyelids, tendons of elbows, hands, knees, feet, particularly Achilles tendon. Interdigital xanthomas occur in persons w/homozygous FH.	APOB LDLR PCSK9
paraplegia	See Hereditary Spastic Paraplegia Overview.	80 genes	ADARXLMat
Ataxia	See Hereditary Ataxia Overview.	130 genes	ADARXL Intellectual
disability	See OMIM Autosomal Dominant, Autosomal Recessive, Nonsyndromic X-Linked, Syndromic X-Linked Intellectual Developmental Disorder Phenotypic Series.	200 genes	ADARXL Genetic leukoenceph-
alopathies	See .	100 genes	ADARXLMat AD = autosomal dominant; AR = autosomal recessive; Mat = maternal; MOI = mode of inheritance; XL = X-linked Inheritance is autosomal recessive with the exception of GUCY2C-related diarrhea, which is inherited in an autosomal dominant manner. 2.

Source: GeneReviews — "Cerebrotendinous Xanthomatosis"

GeneReviews

Management Guidelines

A clinical practice guideline on the diagnosis, treatment, and management of cerebrotendinous xanthomatosis (CTX) has been published, based on expert opinion collected with the Delphi method (full text). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CTX, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Cerebrotendinous Xanthomatosis: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
cholestanol level	Lab testing of lipids incl plasma cholestanol level	—
Peripheral neuropathy	EMG NCV studies as baseline	—
Cardiologic concerns	Cardiac eval incl EKG echocardiogram	—
Osteoporosis	Bone density study	—
Cataracts	Ophthalmologic eval	Neurologic
behavioral concerns	Baseline neurologic neuropsychiatric eval	—
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of CTX to facilitate medical personal decision making Family support resources
Cerebrotendinous Xanthomatosis: Targeted Therapy Manifestation/Concern	Treatment	Considerations/Other cholestanol assoc w/neurologic issues osteoporosis
Cerebrotendinous Xanthomatosis: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
cholestanol assoc w/neurologic issues osteoporosis	Long-term treatment w/CDCA (See .)	See . Inhibitors of HMG-CoA reductase (statins such as simvastatin pravastatin) can be used as alternative treatment alone or in combination w/CDCA.
Cataracts	Surgical cataract extraction	Typically required in at least 1 eye by age 50 yrs
Epilepsy	Symptomatic treatments	Spasticity
Cerebrotendinous Xanthomatosis: Recommended Surveillance System/Concern	Evaluation	Frequency
cholestanol levels	Cholestanol plasma concentration	Annually Neurologic neuropsychologic issues

Source: GeneReviews — "Cerebrotendinous Xanthomatosis"

Kisho

inborn disorder of bile acid synthesis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Cardiac concerns

Osteoporosis

Recent Publications

inborn disorder of bile acid synthesis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Cardiac concerns

Osteoporosis

Recent Publications