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Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Global developmental delay and Drooling; and common findings: Paroxysmal dystonia, Dystonia, Low muscle tone (hypotonia), and Ataxia and others. 26 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Poor speech, Paroxysmal dystonia, Mild intellectual disability |
Eyes | 4 | Nystagmus, Oculomotor apraxia, Pendular nystagmus |
Muscles | 3 | Low muscle tone (hypotonia), Delayed gross motor development, Neonatal hypotonia |
Head and neck | 1 | Microcephaly |
Digestive system | 1 | Feeding difficulties |
Lab test results | 1 | Decreased activity of the pyruvate dehydrogenase complex |
Pregnancy and birth | 1 | Neonatal hypotonia |
DLAT encodes dihydrolipoamide S-acetyltransferase (647 aa). The pyruvate dehydrogenase (PDH) complex, catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable). Highest expression in Muscle Skeletal (38.3 TPM) and Cells EBV-transformed lymphocytes (37.6 TPM).
Pyruvate dehydrogenase E2 deficiency is associated with mutations in the DLAT gene on chromosome 11.
The DLAT protein participates in DlaT reactivates AhpD, DLAT trimer transfers acetyl to CoA, and LIPT1 transfers lipoyl group from lipoyl-GCSH to DLAT pathways.
DLAT is classified as a druggable target (Enzyme category) with score 0.0.
Genetic testing for DLAT is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 16 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for pyruvate dehydrogenase E2 deficiency.
7 publications have been identified in PubMed for pyruvate dehydrogenase E2 deficiency. Research spans Basic Science / Preclinical (57%), Review / Meta-Analysis (29%), and Case Report / Case Series (14%).
Nguyen PT (2026). [PMID: 41890053](https://pubmed.ncbi.nlm.nih.gov/41890053/). *bioRxiv*. [Basic Science / Preclinical]
Li S (2025). [PMID: 40897695](https://pubmed.ncbi.nlm.nih.gov/40897695/). *Cell Death Discov*. [Review / Meta-Analysis]
Yin Q (2025). [PMID: 39979835](https://pubmed.ncbi.nlm.nih.gov/39979835/). *Mol Med*. [Basic Science / Preclinical]
Zhang Y (2024). [PMID: 39481504](https://pubmed.ncbi.nlm.nih.gov/39481504/). *Fish Shellfish Immunol*. [Basic Science / Preclinical]
Huang R (2024). [PMID: 38901133](https://pubmed.ncbi.nlm.nih.gov/38901133/). *Clinics (Sao Paulo)*. [Basic Science / Preclinical]
Qu J (2024). [PMID: 38904034](https://pubmed.ncbi.nlm.nih.gov/38904034/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Policherla J (2024). [PMID: 39007626](https://pubmed.ncbi.nlm.nih.gov/39007626/). *J Neurogenet*. [Case Report / Case Series]