Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient.

TitleFatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient.
Publication TypeJournal Article
Year of Publication1985
AuthorsZeviani, M, Nonaka, I, Bonilla, E, Okino, E, Moggio, M, Jones, S, DiMauro, S
JournalAnn Neurol
Volume17
Issue4
Pagination414-7
Date Published1985 Apr
ISSN0364-5134
KeywordsBiopsy, Cytochrome-c Oxidase Deficiency, Electron Transport Complex IV, Enzyme-Linked Immunosorbent Assay, Fanconi Syndrome, Female, Humans, Infant, Mitochondria, Muscle, Muscular Diseases
Abstract

A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak results, but both reactions were normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectable and enzyme-linked immunosorbent assay showed decreased reaction at all dilutions of antiserum. These data indicate that the amount of immunoreactive enzyme protein is markedly decreased in muscle of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction.

DOI10.1002/ana.410170422
Alternate JournalAnn. Neurol.
Citation Key10.1002/ana.410170422
PubMed ID2988412
Grant ListAM-25500 / AM / NIADDK NIH HHS / United States
NS-11766 / NS / NINDS NIH HHS / United States