What does this research mean for the field?

Compound heterozygous variants in the NDUFS1 gene can cause severe axonal sensorimotor polyneuropathy without prominent systemic metabolic dysfunction, expanding the known phenotypic and genetic spectrum of mitochondrial complex I deficiency. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To describe an atypical presentation of mitochondrial complex I deficiency characterized predominantly by severe axonal sensorimotor polyneuropathy without overt metabolic dysfunction.

September 14, 2026BMC PediatricsOpen Access

Axonal polyneuropathy: compound heterozygous mutations in NDUFS1—a case report

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Authors

RSRaja SawayaAmerican University of Beirut Medical Center ABAmani A. BannoutAmerican University of Beirut Medical Center NMNadine J. MakhoulAmerican University of Beirut Medical Center

Discussion

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Implication

Case report reveals severe axonal polyneuropathy in an adolescent with compound heterozygous NDUFS1 variants, expanding the phenotypic spectrum of mitochondrial complex I deficiency.

Key Points

To describe an atypical presentation of mitochondrial complex I deficiency characterized predominantly by severe axonal sensorimotor polyneuropathy without overt metabolic dysfunction.
Clinical and diagnostic workup of a young adolescent male presenting with progressive gait abnormalities and peripheral nerve dysfunction.
Comprehensive systemic metabolic screening and targeted molecular genetic sequencing to identify causative gene variants.
Standard metabolic testing revealed normal results despite the patient exhibiting severe, progressive axonal sensorimotor polyneuropathy.
Molecular genetic testing identified compound heterozygous mutations in NDUFS1, comprising one novel variant and one previously classified as a variant of uncertain significance.

Cite This Study

Sawaya et al. (2026) studied this question.

synapsesocial.com/papers/6aa7b2e10926e14a848b16cd https://doi.org/10.1186/s12887-026-07687-5

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Implication

Case report reveals severe axonal polyneuropathy in an adolescent with compound heterozygous NDUFS1 variants, expanding the phenotypic spectrum of mitochondrial complex I deficiency.

Axonal polyneuropathy: compound heterozygous mutations in NDUFS1—a case report

Discussion

Member takes

Implication

Key Points

Cite This Study

Axonal polyneuropathy: compound heterozygous mutations in NDUFS1—a case report

Discussion

Member takes

Implication

Key Points

Cite This Study

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