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March 20, 2024

expain what is Tyrosinemia – Inherited disorder that leads to tyrosine accumulation. – Loss/defect in enzyme

expain what is Tyrosinemia – Inherited disorder that leads to tyrosine accumulation. – Loss/defect in enzyme that catabolizes tyrosine in liver ■ Type I- most severe (decreased levels of fumarylacetoacetate hydrolase) ■ Type II- (rare) deficiency of tyrosine aminotransferase. ■ Type III- (very rare) Deficiency of 4-hydroxyphenylpyruvate dioxygenase (build up of tyrosine) failure to thrive, jaundice, cabbage-like odor, nose bleeds !liver & kidney failure, neuropathy & hepatic tumors Excessive tearing, photophobia, eye pain, lesions and mental retardation. mild retardation, seizures and intermittent ataxia.

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