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hereditary myopathy with lactic acidosis due to ISCU deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary myopathy with lactic acidosis due to ISCU deficiency

MONDO:0009706

Also known as:ISCU myopathyaconitase deficiencyiron-sulfur cluster deficiency myopathy

Overview

Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

GeneticsAutosomal recessive · ISCU (chr 12)

ResearchLimited published research (2 articles)

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.

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Low muscle tone (hypotonia), Distal muscle weakness, and Low red blood cell count (anemia) and others; and sometimes findings: Rhabdomyolysis. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	10	Myopathy, Low muscle tone (hypotonia), Muscle spasm

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ISCU encodes iron-sulfur cluster assembly enzyme (167 aa). Mitochondrial scaffold protein, of the core iron-sulfur cluster (ISC) assembly complex, that provides the structural architecture on which the [2Fe-2S] clusters are assembled. Highest expression in Adrenal Gland (227.3 TPM) and Artery Tibial (216.8 TPM).

Hereditary myopathy with lactic acidosis due to ISCU deficiency is associated with mutations in the ISCU gene on chromosome 12.

The ISCU protein participates in 2 Iron:FXN:NFS1:ISD11:ISCU, FXN:NFS1:ISD11:ISCU:2Fe-2S Cluster, and FXN:NFS1:ISD11:ISCU assembles 2Fe-2S iron-sulfur cluster pathways.

ISCU is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for ISCU is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 18 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 hereditary myopathy with lactic acidosis due to ISCU deficiency.

2 publications have been identified in PubMed for hereditary myopathy with lactic acidosis due to ISCU deficiency. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Adorisio R (2025). [PMID: 40678571](https://pubmed.ncbi.nlm.nih.gov/40678571/). *Front Cardiovasc Med*. [Review / Meta-Analysis]
Rusecka JM (2025). [PMID: 40529812](https://pubmed.ncbi.nlm.nih.gov/40529812/). *Front Genet*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 10:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:255125

Orphanet

European rare disease database

Orphanet:43115

GARD

Genetic and Rare Diseases Info Center

GARD:16643

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
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hereditary myopathy with lactic acidosis due to ISCU deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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