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Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.

Yarden Haham Zarbib^1,2, Shira Huri Ohev-Shalom¹, Shani Kassia Lyskov^1,2

¹Metabolic Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.

Antioxidants (Basel, Switzerland)

|January 28, 2026

Summary

Dihydrolipoamide dehydrogenase deficiency, a mitochondrial disorder, shows reduced respiration. Specific enzyme defects correlate with disease severity and ketogenic therapy response.

Keywords:

complex I dysfunction diagnostic assay dihydrolipoamide dehydrogenase deficiency high-resolution respirometry mitochondrial bioenergetics pyruvate dehydrogenase complex α-ketoglutarate dehydrogenase complex

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High-Resolution Respirometry to Assess Bioenergetics in Cells and Tissues Using Chamber- and Plate-Based Respirometers

Published on: October 26, 2021

Area of Science:

Biochemistry
Genetics
Mitochondrial Biology

Background:

Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare mitochondrial disorder.
Pathogenic variants in the DLD gene cause this deficiency, affecting key enzyme complexes.
The exact bioenergetic impact of DLD dysfunction is not fully understood.

Purpose of the Study:

To define the bioenergetic consequences of DLD deficiency.
To develop a novel method for distinguishing PDHc- and αKGDHc-linked respiration.
To correlate genotype with specific mitochondrial defects.

Main Methods:

High-resolution respirometry with a novel single-run protocol.
Simultaneous assessment of mitochondrial respiratory capacity.
Analysis of fibroblasts from six DLD-deficient patients.

Main Results:

Consistent reduction in maximal and complex I-linked respiration in DLD-deficient fibroblasts.
Severe cases showed combined PDHc and αKGDHc impairment; milder cases showed isolated PDHc dysfunction.
No global reduction in mitochondrial mass or mtDNA copy number, indicating intrinsic enzymatic defect.

Conclusions:

Established a reproducible bioenergetic signature for DLD deficiency.
Introduced an integrated diagnostic strategy for enzyme-specific mitochondrial defects.
Provided a framework for understanding variable clinical responses and guiding therapeutic investigations.