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Russell's syndrome III (Alexander Russell)

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An inborn enzymatic defect in biosynthesis of urea.

Description

An inborn enzymatic defect in biosynthesis of urea. Both sexes affected. Very severe in males, milder in females. Males are normal at birth but show lethargy, poor feeding, dyspnea, ataxia, convulsions, hyperthermia, rapid progression to coma and respiratory failure within a few hours or days. In females, onset in early infancy. Symptoms may include dislike of protein food to recurrent vomiting, with or without screaming, headache, confusion, ataxia, dyslalia, progressing or not progressing to coma, and seizures. Sex-linked dominant inheritance.

Bibliography

  • A. Russell, B. Levin, V. G. Oberhalzer, et al:
    Hyperammoniemia: A new instance of an inborn enzymatic defect of the biosynthesis of urea.
    Lancet, London, 1962, 2: 699-700.

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