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lipoic acid synthetase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lipoic acid synthetase deficiency

MONDO:0013762

Also known as:HGCLASPDHLDhyperglycinemia, lactic acidosis, and seizures

Overview

Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.

GeneticsAutosomal recessive · LIAS (chr 4)

ResearchLimited published research (8 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: Seizure, Low muscle tone (hypotonia), Sleep disturbance, and Motor delay and others; and sometimes findings: Leukodystrophy and Brain shrinkage (cerebral atrophy). 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Encephalopathy, Seizure, Cerebral edema

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.

LIAS encodes lipoic acid synthetase (372 aa). Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octa... Highest expression in Testis (7.5 TPM) and Cells EBV-transformed lymphocytes (5.5 TPM).

Lipoic acid synthetase deficiency is associated with mutations in the LIAS gene on chromosome 4.

The LIAS protein participates in LIAS synthesizes lipoyl-GCSH pathway.

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

Diagnosis

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

Prognosis

Phenotype severity distribution: 17 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 lipoic acid synthetase deficiency.

9 publications have been identified in PubMed for lipoic acid synthetase deficiency. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (38%), and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

Fan P (2025). [PMID: 40663606](https://pubmed.ncbi.nlm.nih.gov/40663606/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Gragnaniello V (2025). [PMID: 41030468](https://pubmed.ncbi.nlm.nih.gov/41030468/). *JIMD reports*. [Case Report / Case Series]
Yang Y (2025). [PMID: 40265013](https://pubmed.ncbi.nlm.nih.gov/40265013/). *Frontiers in oncology*. [Basic Science / Preclinical]
Iijima H (2025). [PMID: 40273865](https://pubmed.ncbi.nlm.nih.gov/40273865/). *Molecular genetics and metabolism*. [Case Report / Case Series]
Li J (2025). [PMID: 40494847](https://pubmed.ncbi.nlm.nih.gov/40494847/). *Cell death discovery*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614462

Orphanet

European rare disease database

Orphanet:401859

GARD

Genetic and Rare Diseases Info Center

GARD:12678

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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lipoic acid synthetase 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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