ALAD, aminolevulinate dehydratase, 210

N. diseases: 135; N. variants: 8
Disease: Tyrosinemia, Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.010 Biomarker disease BEFREE It is concluded that secondary enzyme deficiencies observed in hereditary tyrosinemia (delta-aminolevulinic acid dehydratase, methionine adenosyl transferase) are the result of inhibition by succinylacetone and fumarylacetoacetate, accumulating as a result of a primary deficiency of fumarylacetoacetase. 6652907 1983