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Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.
Ann Neurol. 1983 Oct; 14(4):462-70.AN

Abstract

Fatal infantile mitochondrial myopathy with lactic acidosis, morphologically abnormal mitochondria, deficient cytochromes aa3 and b, and a Fanconi-like aminoaciduria has been described. We report two infants, second cousins, with a similar fatal mitochondrial disorder, the cytochrome deficiency limited to skeletal muscle in one child and to liver in the other. The first child at 3 months of age had weight loss, hypotonia, external ophthalmoplegia, and a severe lactic acidosis with a high lactate/pyruvate ratio. Electron microscopy of muscle showed marked proliferation of enlarged mitochondria, many containing concentric rings of cristae. In skeletal muscle mitochondria, cytochromes aa3 and b were not detectable but cytochrome cc was found to be normal by spectroscopy. Cytochrome c oxidase activity was less than 1% of normal. Mitochondria from kidney, liver, heart, lung, and brain examined postmortem had normal cytochromes and preserved cytochrome c oxidase activity. The second cousin at 5 months of age had weight loss and hepatomegaly but no systemic lactic acidosis. Liver biopsy showed hepatocytes packed with enlarged mitochondria. The liver mitochondria showed deficient cytochromes aa3 and b postmortem, and cytochrome c oxidase activity was less than 10% of normal. Kidney mitochondria had normal cytochromes. Muscles was not studied. The mitochondrial abnormality in the two cousins presumably is related. Unexplained are the mode of genetic transmission or environmental exposure and the apparent involvement of a single different organ in each child.

Authors

No 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

6314875

Citation

Boustany, R N., et al. "Mitochondrial Cytochrome Deficiency Presenting as a Myopathy With Hypotonia, External Ophthalmoplegia, and Lactic Acidosis in an Infant and as Fatal Hepatopathy in a Second Cousin." Annals of Neurology, vol. 14, no. 4, 1983, pp. 462-70.
Boustany RN, Aprille JR, Halperin J, et al. Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Ann Neurol. 1983;14(4):462-70.
Boustany, R. N., Aprille, J. R., Halperin, J., Levy, H., & DeLong, G. R. (1983). Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Annals of Neurology, 14(4), 462-70.
Boustany RN, et al. Mitochondrial Cytochrome Deficiency Presenting as a Myopathy With Hypotonia, External Ophthalmoplegia, and Lactic Acidosis in an Infant and as Fatal Hepatopathy in a Second Cousin. Ann Neurol. 1983;14(4):462-70. PubMed PMID: 6314875.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. AU - Boustany,R N, AU - Aprille,J R, AU - Halperin,J, AU - Levy,H, AU - DeLong,G R, PY - 1983/10/1/pubmed PY - 1983/10/1/medline PY - 1983/10/1/entrez SP - 462 EP - 70 JF - Annals of neurology JO - Ann Neurol VL - 14 IS - 4 N2 - Fatal infantile mitochondrial myopathy with lactic acidosis, morphologically abnormal mitochondria, deficient cytochromes aa3 and b, and a Fanconi-like aminoaciduria has been described. We report two infants, second cousins, with a similar fatal mitochondrial disorder, the cytochrome deficiency limited to skeletal muscle in one child and to liver in the other. The first child at 3 months of age had weight loss, hypotonia, external ophthalmoplegia, and a severe lactic acidosis with a high lactate/pyruvate ratio. Electron microscopy of muscle showed marked proliferation of enlarged mitochondria, many containing concentric rings of cristae. In skeletal muscle mitochondria, cytochromes aa3 and b were not detectable but cytochrome cc was found to be normal by spectroscopy. Cytochrome c oxidase activity was less than 1% of normal. Mitochondria from kidney, liver, heart, lung, and brain examined postmortem had normal cytochromes and preserved cytochrome c oxidase activity. The second cousin at 5 months of age had weight loss and hepatomegaly but no systemic lactic acidosis. Liver biopsy showed hepatocytes packed with enlarged mitochondria. The liver mitochondria showed deficient cytochromes aa3 and b postmortem, and cytochrome c oxidase activity was less than 10% of normal. Kidney mitochondria had normal cytochromes. Muscles was not studied. The mitochondrial abnormality in the two cousins presumably is related. Unexplained are the mode of genetic transmission or environmental exposure and the apparent involvement of a single different organ in each child. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/6314875/Mitochondrial_cytochrome_deficiency_presenting_as_a_myopathy_with_hypotonia_external_ophthalmoplegia_and_lactic_acidosis_in_an_infant_and_as_fatal_hepatopathy_in_a_second_cousin_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1983&volume=14&issue=4&spage=462 DB - PRIME DP - Unbound Medicine ER -