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

Rare Disease

inborn disorder of porphyrin metabolism

MONDO:0017754

Also known as:disorder of porphyrin and haem metabolisminborn disorder of porphyrin and haem metabolisminborn error of porphyrin-containing compound metabolic process

Overview

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.

OnsetCHILDHOOD

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: childhood.

GeneReviews

Clinical Guidance

The natural history of X-linked protoporphyria (XLP) is not as well characterized as that of the autosomal recessive type of erythropoietic protoporphyria (EPP-AR) . A natural history study from the US described 22 individuals with XLP from seven unrelated families .

XLP in Males

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

There are no established guidelines or diagnostic algorithms.

Suggestive Findings

X-linked protoporphyria (XLP) should be suspected in individuals with the following clinical findings and initial laboratory findings.

Clinical findings

Cutaneous photosensitivity, usually beginning in childhood

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 inborn disorder of porphyrin metabolism. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with X-linked protoporphyria (XLP), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended :

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 4.

Recommended Surveillance for Individuals with X-Linked Protoporphyria

System/Concern | Evaluation | Frequency

Erythrocyte

protoporphyrin levels

plasma total porphyrins | Both free zinc-chelated | Annually

Anemia

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 inborn disorder of porphyrin metabolism.

111 publications have been identified in PubMed for inborn disorder of porphyrin metabolism. Research spans Basic Science / Preclinical (57%), Review / Meta-Analysis (29%), and Diagnostic / Biomarker (5%).

Research Type	Count	% of Total
Laboratory research	63	57%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 10:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309813

GARD

Genetic and Rare Diseases Info Center

GARD:21346

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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Kisho

inborn disorder of porphyrin metabolism

Overview

Clinical Presentation

Clinical Guidance

XLP in Males

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Anemia

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Iron store depletion

Hepatic involvement

Vitamin D deficiency

Recent Publications

inborn disorder of porphyrin metabolism

Overview

Clinical Presentation

Clinical Guidance

XLP in Males

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Anemia

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Iron store depletion

Hepatic involvement

Vitamin D deficiency

Recent Publications