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Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.
Neurology. 1980 Aug; 30(8):795-804.Neur

Abstract

A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 3 1/2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undetectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

6251406

Citation

DiMauro, S, et al. "Fatal Infantile Mitochondrial Myopathy and Renal Dysfunction Due to Cytochrome-c-oxidase Deficiency." Neurology, vol. 30, no. 8, 1980, pp. 795-804.
DiMauro S, Mendell JR, Sahenk Z, et al. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology. 1980;30(8):795-804.
DiMauro, S., Mendell, J. R., Sahenk, Z., Bachman, D., Scarpa, A., Scofield, R. M., & Reiner, C. (1980). Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology, 30(8), 795-804.
DiMauro S, et al. Fatal Infantile Mitochondrial Myopathy and Renal Dysfunction Due to Cytochrome-c-oxidase Deficiency. Neurology. 1980;30(8):795-804. PubMed PMID: 6251406.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. AU - DiMauro,S, AU - Mendell,J R, AU - Sahenk,Z, AU - Bachman,D, AU - Scarpa,A, AU - Scofield,R M, AU - Reiner,C, PY - 1980/8/1/pubmed PY - 1980/8/1/medline PY - 1980/8/1/entrez SP - 795 EP - 804 JF - Neurology JO - Neurology VL - 30 IS - 8 N2 - A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 3 1/2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undetectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies. SN - 0028-3878 UR - https://www.unboundmedicine.com/medline/citation/6251406/Fatal_infantile_mitochondrial_myopathy_and_renal_dysfunction_due_to_cytochrome_c_oxidase_deficiency_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=6251406.ui DB - PRIME DP - Unbound Medicine ER -