Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.

A mitochondrial defect was investigated in an infant with fatal congenital lactic acidosis (3-14 mM), high lactate-to-pyruvate ratio, hypotonia, and cardiomyopathy. His sister had died with a similar disorder. Resting oxygen consumption was 150% of controls. Pathological findings included increased...

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Bibliografske podrobnosti
izdano v:J Clin Invest
Main Authors: Hoppel, C L, Kerr, D S, Dahms, B, Roessmann, U
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 1987
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC442203/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3110216/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113066
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