Abstract
The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Ataxia / diagnosis
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Ataxia / metabolism
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Brain Diseases / diagnosis*
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Brain Diseases / enzymology
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Brain Diseases, Metabolic / diagnosis
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Brain Diseases, Metabolic / enzymology
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Child
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Cytochrome-c Oxidase Deficiency
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Humans
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Intellectual Disability / diagnosis
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Intellectual Disability / metabolism
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Male
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Muscular Diseases / diagnosis
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Muscular Diseases / enzymology
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Neuromuscular Diseases / diagnosis*
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Neuromuscular Diseases / enzymology