NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.

doi:10.1007/BF01799845

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Article

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.

Journal of inherited metabolic disease - 1 Jan 1996

Pitkänen S, Feigenbaum A, Laframboise R, Robinson B H

Abstract excerpt

Twelve patient cell lines with biochemically proven complex I deficiency were compared for clinical presentation and outcome, together with their sensitivity to galactose and menadione toxicity. Each patient had elevated lactate to pyruvate ratios demonstrable in fibroblast cultures. Each patient...

Topics

Acidosis, Lactic
Adenosine Triphosphate
Cardiomyopathies
Cataract
Cell Line
Child
Child, Preschool
Fibroblasts
Galactose
Hepatomegaly
Humans
Infant
Infant, Newborn
Kidney Diseases
Leigh Disease
NAD(P)H Dehydrogenase (Quinone)
Phenotype
Vitamin K

Source

Open in PubMed

Identifiers

PMID: 8892026
DOI: 10.1007/BF01799845

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8892026-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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