SPR, sepiapterin reductase, 6697

N. diseases: 90; N. variants: 12
Disease: Classical phenylketonuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.010 Biomarker disease BEFREE Thus, autosomal recessive SR deficiency leads to BH(4) and to neurotransmitter deficiencies without hyperphenylalaninemia and may not be detected by neonatal screening for phenylketonuria. 11443547 2001