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Unknown
Unknown
Y+L amino acid
transporter 1
4F2
cell-surface
antigen heavy
chain
GTP
cyclohydrolase
GTP
cyclohydrolase
GTP
cyclohydrolase
GTP
cyclohydrolase
6-pyruvoyl
tetrahydrobiopterin
synthase
Sepiapterin
reductase
Sepiapterin
reductase
Aldose
reductase
Carbonyl
reductase
[NADPH] 1
Sepiapterin
reductase
Carbonyl
reductase
[NADPH] 1
Sepiapterin
reductase
Dihydrofolate
reductase
Sepiapterin
reductase
Phenylalanine-
4-hydroxylase
Dihydropteridine
reductase
Guanosine triphosphate
L-Phenylalanine
L-Phenylalanine
Formamidopyrimidine nucleoside
triphosphate
H
2
O
2,5-Diaminopyrimidine
nucleoside triphosphate
Formic acid
H
2
O
Formic acid
2,5-Diamino-6-(5'-
triphosphoryl-3',4'-
trihydroxy-2'-oxopentyl)-
amino-4-oxopyrimidine
Dihydroneopterin triphosphate
H
2
O
Dyspropterin
PPPi
NADP
NADPH
1-hydroxy-2-Oxopropyl
tetrahydropterin
NADP
6-Lactoyltetrahydropterin
NADPH
NADP
NADPH
Sepiapterin
NADPH
7,8-Dihydroneopterin
NADP
NADP
NADPH
NADP
Tetrahydrobiopterin
NADPH
NADPH
NADP
H
2
O
Neopterin
NAD
NADH
O
2
L-erythro-tetrahydrobiopterin
L-Tyrosine
Dihydrobiopterin
NADPH
NADP
Zinc
Zinc
Zinc
Zinc
Zinc
Fe2+
Purine
Metabolism
Cytosol
Global development delay,
microcephaly, and
intellectual disability
Dysphagia
Unknown
Unknown
SLC7A7
SLC3A2
GCH1
GCH1
GCH1
GCH1
PTS
SPR
SPR
AKR1B1
CBR1
SPR
CBR1
SPR
DHFR
SPR
PAH
QDPR
Guanosine
triphosphate
L-Phenylalanine
L-Phenylalanine
Formamidopyrimidine
nucleoside
triphosphate
Water
2,5-
Diaminopyrimidine
nucleoside
triphosphate
Formic acid
Water
Formic acid
2,5-Diamino-
6-(5'-
triphosphoryl-
3',4'-
trihydroxy- 2'-
oxopentyl)-
amino-4-
oxopyrimidine
Dihydroneopterin
triphosphate
Water
Dyspropterin
PPPi
NADP
NADPH
1-hydroxy-2-
Oxopropyl
tetrahydropterin
NADP
6-
Lactoyltetrahydropterin
NADPH
NADP
NADPH
Sepiapterin
NADPH
7,8-
Dihydroneopterin
NADP
NADP
NADPH
NADP
Tetrahydrobiopterin
NADPH
NADPH
NADP
Water
Neopterin
NAD
NADH
Oxygen
L-erythro-
tetrahydrobiopterin
L-Tyrosine
Dihydrobiopterin
NADPH
NADP
Purine
Metabolism