Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism caused by fumarylacetoacetase deficiency. Biochemically, this results in accumulation of toxic metabolites including succinylacetone. Clinically, HT1 is characterized by severe liver, kidney, and neurological problems. Treatment with...

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Vydáno v:JIMD Rep
Hlavní autoři: van Vliet, Danique, van Dam, Esther, van Rijn, Margreet, Derks, Terry G. J., Venema-Liefaard, Gineke, Hitzert, Marrit M., Lunsing, Roelineke J., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361924/
https://ncbi.nlm.nih.gov/pubmed/25256450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_358
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