Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy
Journal
Journal of Child Neurology
Journal Volume
28
Journal Issue
3
Pages
404-408
Date Issued
2013
Author(s)
Abstract
The authors describe a newborn with postnatal myopathy who subsequently developed feeding difficulties, ophthalmoplegia, ptosis, encephalopathy, and seizures. She became ventilator dependent after sudden apnea. The myopathy was without ragged red fibers in the muscle biopsy. An electron transport chain study showed a markedly generalized low level of enzyme activity, particularly in complexes I, I + III, and IV. An initial electroencephalogram finding was normal; subsequent electroencephalograms showed suppression bursts. The mitochondrial copy number in skeletal muscle was 2% of normal. ? The Author(s) 2013.
Subjects
Leigh syndrome; mitochondrial depletion; myopathy; newborn; renal tubulopathy
SDGs
Other Subjects
carbon dioxide; carnitine; citrate synthase; creatine; cytochrome b5 reductase; cytochrome c oxidase; edrophonium chloride; lactic acid; n acetylaspartic acid; neostigmine; reduced nicotinamide adenine dinucleotide dehydrogenase; rotenone; succinate dehydrogenase; apnea; article; case report; depletion; electroencephalogram; electromyogram; enzyme activity; human; hypercapnia; kidney tubule disorder; lactate blood level; Leigh disease; mitochondrial DNA depletion syndrome; muscle biopsy; myasthenia gravis; myofibrosis; myopathy; newborn; newborn disease; nuclear magnetic resonance imaging; nuclear magnetic resonance spectroscopy; phosphaturia; priority journal; respiratory acidosis; respiratory chain; skeletal muscle; treatment failure; Brain; Female; Humans; Infant; Infant, Newborn; Kidney Diseases; Kidney Tubules; Leigh Disease; Mitochondria; Muscle, Skeletal; Muscular Diseases
Type
journal article