[Leigh disease in a 17-year-old boy]
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Updated: Oct 12, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
J Rujner1, W T Chruściel, H Kulczycka
1Oddziału Gastroenterologii Centrum Zdrowia Dziecka w Warszawie.
Abstract:
A boy aged 1.5 year with deficient weight and height, retardation of motor development, decreased muscle tonus, finger tremor and periodic tachypnoea without detectable respiratory system changes is presented. Gasometry demonstrated metabolic acidosis with respiratory alkalosis, high concentration of lactic acid in serum and cerebrospinal fluid, increasing metabolic acidosis after glucose load, and lack of hyperglycaemic response after alanine load, and cortical atrophy in CT. On the basis of these changes Leigh's disease was diagnosed.
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