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lipoyl transferase 1 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lipoyl transferase 1 deficiency

MONDO:0014576

Also known as:LIPT1Dlipoyltransferase 1 deficiency

Overview

GeneticsAutosomal recessive · LIPT1 (chr 2)

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: Delayed CNS myelination, Dystonia, Shrinkage of the cerebellum (cerebellar atrophy), and Low muscle tone (hypotonia) and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Dystonia, Enlarged brain ventricles (ventriculomegaly), Loss of previously acquired skills (developmental regression)

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.

LIPT1 encodes lipoyltransferase 1 (373 aa). Lipoyl amidotransferase that catalyzes the transfer of lipoyl moieties from lipoyl-protein H of the glycine cleavage system (lipoyl-GCSH) to E2 subunits of the pyruvate dehydrogenase complex (PDCE2). Highest expression in Testis (14.5 TPM) and Thyroid (11.8 TPM).

Lipoyl transferase 1 deficiency is associated with mutations in the LIPT1 gene on chromosome 2.

The LIPT1 protein participates in LIPT1 transfers lipoyl group from lipoyl-GCSH to DLAT and LIPT1 transfers lipoyl group from lipoyl-GCSH to DBT/DLST pathways.

LIPT1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for LIPT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 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 lipoyl transferase 1 deficiency.

14 publications have been identified in PubMed for lipoyl transferase 1 deficiency. Research spans Basic Science / Preclinical (79%), Review / Meta-Analysis (7%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Laboratory research	11	79%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616299

Orphanet

European rare disease database

Orphanet:401862

GARD

Genetic and Rare Diseases Info Center

GARD:12680

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?
→Is there a patient registry I should consider joining?

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Kisho

lipoyl transferase 1 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

lipoyl transferase 1 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications