PTS, 6-pyruvoyltetrahydropterin synthase, 5805

N. diseases: 89; N. variants: 40
Disease: Transient hyperphenylalaninemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		0.010 GeneticVariation disease BEFREE The PTPS-deficient patient with the homozygous K129E allele had transient hyperphenylalaninemia, did not depend on BH4 replacement therapy, and showed normal PTPS immunoreactivity, but no enzyme activity in primary fibroblasts and red blood cells. 9222757 1997