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Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.
Neurology. 1985 Jun; 35(6):802-12.Neur

Abstract

A 2-month-old boy had progressive generalized weakness, hypotonia, and respiratory insufficiency requiring assisted ventilation. At age 3 1/2 months, he started having seizures and recurrent pulmonary infections; he died at age 7 months. Serum lactate was chronically elevated, but there was no aminoaciduria. Histochemical and ultrastructural studies of muscle biopsies at ages 2 and 3 months showed excessive mitochondria, lipid, and glycogen; a third biopsy at 6 months showed marked increase in perimysial fibrous and fat tissue. Cytochrome c oxidase activity was 7% of normal in the first biopsy and undetectable in the others. Cytochrome spectra of mitochondria isolated from postmortem muscle showed complete lack of cytochrome aa3. Antibodies were obtained against cytochrome c oxidase purified from normal human heart. Immunotitration and enzyme-linked immunosorbent assay (ELISA) showed decreased immunologically reactive enzyme protein in the patient's muscle, but SDS-PAGE electrophoresis of immunoprecipitates of muscle mitochondrial extracts showed the presence of all cytochrome c oxidase subunits. These data suggest that decreased synthesis of one or more subunits may result in markedly decreased concentration of electrophoretically normal complex IV in skeletal muscle.

Authors

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Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

2987757

Citation

Bresolin, N, et al. "Fatal Infantile Cytochrome C Oxidase Deficiency: Decrease of Immunologically Detectable Enzyme in Muscle." Neurology, vol. 35, no. 6, 1985, pp. 802-12.
Bresolin N, Zeviani M, Bonilla E, et al. Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology. 1985;35(6):802-12.
Bresolin, N., Zeviani, M., Bonilla, E., Miller, R. H., Leech, R. W., Shanske, S., Nakagawa, M., & DiMauro, S. (1985). Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology, 35(6), 802-12.
Bresolin N, et al. Fatal Infantile Cytochrome C Oxidase Deficiency: Decrease of Immunologically Detectable Enzyme in Muscle. Neurology. 1985;35(6):802-12. PubMed PMID: 2987757.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. AU - Bresolin,N, AU - Zeviani,M, AU - Bonilla,E, AU - Miller,R H, AU - Leech,R W, AU - Shanske,S, AU - Nakagawa,M, AU - DiMauro,S, PY - 1985/6/1/pubmed PY - 1985/6/1/medline PY - 1985/6/1/entrez SP - 802 EP - 12 JF - Neurology JO - Neurology VL - 35 IS - 6 N2 - A 2-month-old boy had progressive generalized weakness, hypotonia, and respiratory insufficiency requiring assisted ventilation. At age 3 1/2 months, he started having seizures and recurrent pulmonary infections; he died at age 7 months. Serum lactate was chronically elevated, but there was no aminoaciduria. Histochemical and ultrastructural studies of muscle biopsies at ages 2 and 3 months showed excessive mitochondria, lipid, and glycogen; a third biopsy at 6 months showed marked increase in perimysial fibrous and fat tissue. Cytochrome c oxidase activity was 7% of normal in the first biopsy and undetectable in the others. Cytochrome spectra of mitochondria isolated from postmortem muscle showed complete lack of cytochrome aa3. Antibodies were obtained against cytochrome c oxidase purified from normal human heart. Immunotitration and enzyme-linked immunosorbent assay (ELISA) showed decreased immunologically reactive enzyme protein in the patient's muscle, but SDS-PAGE electrophoresis of immunoprecipitates of muscle mitochondrial extracts showed the presence of all cytochrome c oxidase subunits. These data suggest that decreased synthesis of one or more subunits may result in markedly decreased concentration of electrophoretically normal complex IV in skeletal muscle. SN - 0028-3878 UR - https://www.unboundmedicine.com/medline/citation/2987757/Fatal_infantile_cytochrome_c_oxidase_deficiency:_decrease_of_immunologically_detectable_enzyme_in_muscle_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=2987757.ui DB - PRIME DP - Unbound Medicine ER -