Abstract
Background/Purpose: Hepatorenal tyrosinemia (HT1, MIM #276700) severely damages liver and kidney if untreated. It is frequently associated with peripheral neuropathy and central demyelination, attributed to increased 5-aminolevulinic acid levels. Introduction of nitisinone (NTBC, Orfadin®) revolutionized outcome, stabilizing liver and kidney function. Acute neuropathy can be avoided. However, negative long-term effects on neurocognitive function have been postulated.
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