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disorder of polyamine metabolism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

disorder of polyamine metabolism

MONDO:0800159

Overview

An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.

OnsetNEONATAL, ANTENATAL, CONGENITAL, LATE

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.

Age of onset: newborn period, before birth, at birth, later in life.

GeneReviews

Clinical Guidance

To date, nine individuals from nine families have been reported with a pathogenic variant in ODC1 [, , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Bachmann-Bupp Syndrome: Frequency of Select Features

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

No consensus clinical diagnostic criteria for Bachmann-Bupp syndrome (BABS) have been published.

Suggestive Findings

BABS should be considered in individuals with the following clinical, suggestive laboratory, and imaging findings.

Clinical findings

Prenatal history of polyhydramnios

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.

No approved treatments are currently available for disorder of polyamine metabolism. The disease remains an area of unmet medical need.

Gene therapy approaches for disorder of polyamine metabolism have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for Bachmann-Bupp syndrome (BABS) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with BABS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Bachmann-Bupp Syndrome

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with Bachmann-Bupp Syndrome

System/Concern

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.

No clinical trials have been registered for disorder of polyamine metabolism.

251 publications have been identified in PubMed for disorder of polyamine metabolism. Research spans Basic Science / Preclinical (76%), Review / Meta-Analysis (9%), and Gene Therapy / Novel Therapeutics (5%).

Research Type	Count	% of Total
Laboratory research	190	76%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Feature	% of Personsw/Feature	Comment
Alopecia	9/9 (100%)	—
Nonspecific dysmorphic features	9/9 (100%)	No specific pattern identified
Developmental delay1	8/8 (100%)	—
Hypotonia1	8/8 (100%)	—
Macrocephaly	6/9 (66%)	—
Pregnancy notable for polyhydramnios	5/9 (55.5%)	—
Skin findings1	4/8 (50%)	Keratosis pilaris and follicular cysts
Constipation1	3/8 (37.5%)	—
Macrosomia	2/5 (40%)	Measured in infancy; growth parameters tend to normalize w/age.
Seizures1	1/8 (12.5%)	1. One reported case was of a late-term stillbirth; thus, some features pertaining to this person are unknown .; Hair is typically present at birth but is sometimes sparse and sometimes has atypical color (darker or lighter than anticipated).

GeneReviews

Differential Diagnosis

Table 3. Selected Genetic Disorders in the Differential Diagnosis of Bachmann-Bupp Syndrome

Gene(s)	DiffDx Disorder	MOI	Features Observed in DiffDx Disorder BABS	Features Distinguishing from BABS
CHD3	Snijders Blok-Campeau syndrome (SNIBCPS; OMIM 618205)	AD	DD, macrocephaly, hypotonia	In SNIBCPS: ventriculomegaly, common dysmorphic features, joint laxity
DCAF17	Woodhouse-Sakati syndrome (OMIM 241080)	AR	Alopecia totalis, dystonia	Hypogonadism, diabetes mellitus
LSS	LSS-related neurodevelopmental disorder (OMIM 618840)	AR	Alopecia, DD, epilepsy	Alopecia is congenital in persons w/LSS-related neurodevelopmental disorder.
PAK1	Intellectual developmental disorder with macrocephaly, seizures, speech delay (IDDMSSD; OMIM 618158)	AD	DD, macrocephaly, seizures	In IDDMSSD: ataxia absence of consistent hair skin abnormalities
PTEN	Cowden syndrome (See PTEN Hamartoma Tumor Syndrome.)	AD	DD, macrocephaly	Facial trichilemmomas, acral keratoses, papillomatous papules, risk for breast, thyroid, endometrial cancers Ectodermal dysplasias including the following: EDA EDAR EDARADD WNT10A
Hypohidrotic ectodermal dysplasia	XL, AD, AR	Hypotrichosis: thin, lightly pigmented, slow-growing scalp hair	Ectodermal dysplasia is not typically assoc w/DD or hypotonia. Alopecia is congenital in most ectodermal dysplasia.; BABS is not assoc w/dental issues. Only 1 person w/BABS was reported to have sweating. GJB6	—
Hidrotic ectodermal dysplasia 2	AD	Partial-to-complete alopecia	—	—
HOXC13	Ectodermal dysplasia 9, hair/nail type (OMIM 614931)	AR	Generalized congenital atrichia	—
KRT74	Ectodermal dysplasia 7, hair/nail type (OMIM 614929)	AR	Generalized hypotrichosis or atrichia	—
KRT85	Ectodermal dysplasia 4, hair/nail type (OMIM 602032)	AR	Sparse or absent scalp hair; absent eyebrows, eyelashes, pubic axillary hair AD = autosomal dominant; AR = autosomal recessive; BABS = Bachmann-Bupp syndrome; DD = developmental delay; DiffDx = differential diagnosis; MOI = mode of inheritance; XL = X-linked	—

Source: GeneReviews — "Bachmann-Bupp Syndrome"

System/Concern	Evaluation	Comment
Constitutional	Measurement of growth parameters	To evaluate for overgrowth in infancy/childhood Gastrointestinal/
Feeding	Gastroenterology/ nutrition/ feeding team eval	To incl eval for aspiration risk, nutritional status, signs symptoms of constipation; May require use of special nipple /or nasogastric tube in infancy; Consider eval for gastric tube placement in those w/dysphagia /or aspiration risk.
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech/language eval; Eval for early intervention/ special education Psychiatric/
Behavioral	Neuropsychiatric eval	For persons age 12 mos: screening for behavior concerns incl ADHD, aggression /or traits suggestive of ASD
Neurologic	Neurologic eval	Consider EEG brain MRI if seizures are a concern.
Eyes	Ophthalmologic eval	To assess for eye alignment refractive error
Ears/Hearing	Audiology eval	To assess for presence type of hearing loss
Skin/Hair	Physical exam for follicular cysts	Consider referral to dermatologist
Cardiovascular	Auscultation for heart murmur	Consider echocardiogram, as clinically indicated Genetic
counseling	By genetics professionals1	To inform patients families re nature, MOI, implications of BABS in order to facilitate medical personal decision making Family support resources
Supportive Treatment of Manifestations in Individuals with Bachmann-Bupp Syndrome Manifestation/Concern	Treatment	Considerations/Other Feeding difficulties
Overgrowth	Nutritional intervention	Consider restricting caloric intake.
Constipation	Stool softeners, prokinetics, osmotic agents, or laxatives as needed	—
DD/ID	See .	Incl social/behavioral concerns
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for BABS.; In 1 person, epilepsy was refractory to multiple ASMs, ketogenic diet, vagal nerve stimulators.1; Education of parents/caregivers2
Refractive error /orstrabismus	Standard treatment(s) as recommended by ophthalmologist	—
Hearing loss	Standard treatment per audiologist	Follicular
cysts	Standard treatment per dermatologist	May require surgical drainage Congenital
heart defects	Standard treatment per cardiology	Family/ Community

Kisho

disorder of polyamine metabolism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Trials

Recent Publications

disorder of polyamine metabolism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Trials

Recent Publications