作者: Sumaira Malik , Sinead NiMhurchadha , Christina Jackson , Lina Eliasson , John Weinman
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摘要: Background: Type 1 hereditary tyrosinaemia (HT1) is a rare metabolic disorder caused by an enzymatic defect in the metabolism of amino acid tyrosine. Primary treatment for HT1 nitisinone (Orfadin) conjunction with low-tyrosine/phenylalanine diet. The appropriate use medication and adhering to specialist diet thus central successful management HT1.