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  • Title: [Neurological crisis in type 1 hereditary thyrosinemia].
    Author: Zuazo E, Garaizar C, Labayru M, Prats JM.
    Journal: Neurologia; 1994; 9(7):296-9. PubMed ID: 7946426.
    Abstract:
    Type 1 hereditary thyrosinemia is a recessive autosomic disease arising from a deficit of fumarylacetoacetate hydrolase enzyme. Neurological changes are similar to those of intermittent acute porphyria, with no biological warning markers nor treatment other than that of symptoms. We present 2 patients suffering several sudden crises of peripheral neuropathy, with other signs of "neurological crisis" occurring at times. We conclude that neurological signs of the diseases are frequent and severe and that, in our limited experience, early liver transplant is the only way of preventing them.
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