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

Rare Disease

disorder of copper metabolism

MONDO:0017762

Also known as:inborn cellular copper ion homeostasis disorderinborn error of cellular copper ion homeostasisrare inborn error of cellular copper ion homeostasis

Overview

An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.

OnsetJUVENILE, CONGENITAL

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: adolescence, at birth.

GeneReviews

Clinical Guidance

The clinical spectrum of ATP7A-related copper transport disorders ranges from classic Menkes disease at the severe end, to occipital horn syndrome (OHS), to isolated distal motor neuropathy (DMN) . Classic Menkes disease is characterized by neurodegeneration and failure to thrive commencing at age two to three months. The age at diagnosis is usually between four to eight months. In contrast, OHS presents in early-to-middle childhood and is characterized predominantly by connective tissue abnormalities. ATP7A-related DMN is an adult-onset disorder resembling Charcot-Marie-Tooth hereditary neuropathy; it shares none of the clinical abnormalities characteristic of classic Menkes disease or OHS.

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

An ATP7A-related copper transport disorder (Menkes disease, occipital horn syndrome, or ATP7A-related distal motor neuropathy) should be suspected in individuals with the following clinical and laboratory findings.

Clinical Findings

Classic Menkes disease is suspected in males who develop hypotonia, failure to thrive, and seizures between age six and twelve weeks. Shortly thereafter, hair changes become manifest: the scalp and (usually) eyebrow hair is short, sparse, coarse, twisted, and often lightly pigmented (white, silver, or gray). The hair is shorter and thinner on the sides and back of the head. The hair can be reminiscent of steel wool cleaning pads.

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 copper metabolism. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No formal clinical practice guidelines for ATP7A-related copper transport disorders have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in a male diagnosed with an ATP7A-related copper transport disorder, the evaluations summarized in , , and (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

For infants being treated with CuHis (or temporarily with CuCl2), monitor serum copper and ceruloplasmin levels to avoid supranormal levels. Table 5a. Recommended Surveillance for a Male with Menkes Disease

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 copper metabolism.

60 publications have been identified in PubMed for disorder of copper metabolism. Research spans Case Report / Case Series (27%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	16	27%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309839

GARD

Genetic and Rare Diseases Info Center

GARD:21354

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

disorder of copper metabolism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Classic Menkes Disease

Differential Diagnosis

Neurologic

Development

Feeding

Bladder function

Immunology

Therapies Under Investigation

Clinical Trials

Recent Publications

disorder of copper metabolism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Classic Menkes Disease

Differential Diagnosis

Neurologic

Development

Feeding

Bladder function

Immunology

Therapies Under Investigation

Clinical Trials

Recent Publications