SPR, sepiapterin reductase, 6697

N. diseases: 90; N. variants: 12
Disease: Methylmalonic acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.010 Biomarker phenotype BEFREE The initial diagnosis of methylmalonic aciduria may afterwards be considered to have not significantly contributed to her clinical condition and only has led to a long delay of the clinically relevant diagnosis of SR deficiency. 16650784 2006