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inherited lipid metabolism disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited lipid metabolism disorder

MONDO:0002525

Also known as:disorder of lipid metabolismdyslipidaemiadyslipidemia

Find Clinical TrialsTrials

Overview

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.

OnsetINFANTILE, ANTENATAL, NEONATAL

Clinical Trials163 registered · 34 recruiting

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: infancy, before birth, newborn period.

GeneReviews

Clinical Guidance

Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material that results in a hoarse voice from early infancy and characteristic skin lesions. To date, more than 400 individuals have been identified with biallelic pathogenic variants in ECM1 . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Lipoid Proteinosis: Frequency of Select Features Feature | Frequency

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

Suggestive Findings

Lipoid proteinosis (LP), which is characterized by deposition of hyaline-like material in the larynx, oral cavity, skin, and internal organs, should be suspected in individuals with the following clinical manifestations, neuroimaging findings and family history. Clinical manifestations (in order of their importance for diagnosis):

Source: GeneReviews — "Lipoid Proteinosis"

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 inherited lipid metabolism disorder. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for lipoid proteinosis (LP) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LP, 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 Lipoid Proteinosis (LP)

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 Lipoid Proteinosis (LP)

System/Concern | Evaluation | Frequency

Airway obstruction

| Otolaryngologist assessment of airway vocal cords | Every 6 mos

Cutaneous papules

plaques | Dermatologic exams

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.

163 clinical trials registered, 34 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and procedural interventions. Pipeline includes 11 PHASE4, 9 PHASE3, 8 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06494488](https://clinicaltrials.gov/study/NCT06494488)

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 6:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309005

GARD

Genetic and Rare Diseases Info Center

GARD:21314

Questions for Your Care Team

→Are any of the 163 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

System/Concern	Evaluation	Comment
Skin lesions	Dermatologist	Assess for hemorrhagic or crusting lesions.
Upper airway	Otolaryngologist	Assess for airway obstruction assoc w/vocal cord infiltration.
Epilepsy	Neurologist	If clinical findings suggest seizures Neuropsychiatric
disorders	Neurobehavioral testing	Assess for memory impairment, hallucinations, paranoia, aggressive behavior. Brain MRI
counseling	By genetics professionals1	To inform patients families re nature, MOI, implications of LP in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Lipoid Proteinosis (LP) Manifestation/Concern	Treatment	Considerations/Other
Airway obstruction	Microlaryngoscopic excision of laryngeal deposits	Improves airway access voice quality Tracheostomy
plaques	Oral dimethylsulfoxide, D-penicillamine, oral retinoid (e.g., acitretin)	For skin softening concomitant amelioration of mucosal lesions hoarseness
Seizures	ASM as determined by neurologist	Some persons are resistant to ASMs.; Successful treatment w/ASMs incl Tegretol® Keppra® has been reported . ASM = anti-seizure medication Surveillance Table 6.
Recommended Surveillance for Individuals with Lipoid Proteinosis (LP) System/Concern	Evaluation	Frequency
Airway obstruction	Otolaryngologist assessment of airway vocal cords	Every 6 mos Cutaneous papules plaques
Seizures	Neurologic eval	Annually Neuropsychiatric disorders

Research Type	Count	% of Total
Research summaries	165	33%
Laboratory research	102	20%
Disease patterns and progression	101	20%
Patient case studies	43	9%
Clinical study results	35	7%
Testing and diagnosis research	32	6%
New treatment approaches	17	3%
Other research	5	1%

In nearly all	Common	Infrequent
Hoarse voice	Severe dysphonia /or complete aphonia	Breathing difficulties
Moniliform blepharosis	Hyperkeratotic verrucous lesions	Patchy diffuse alopecia

Kisho

inherited lipid metabolism disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Airway obstruction

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

ABCC6

Therapies Under Investigation

Clinical Trials

Seizures

Recent Publications

inherited lipid metabolism disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Airway obstruction

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

ABCC6

Therapies Under Investigation

Clinical Trials

Seizures

Recent Publications