SPR, sepiapterin reductase, 6697

N. diseases: 90; N. variants: 12
Disease: Methylmalonic aciduria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.010 Biomarker disease 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