Phenylketonuria

Stable Identifier
R-HSA-2160456
Type
Pathway
Species
Homo sapiens
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Phenylalanine hydroxylase (PAH) normally catalyzes the conversion of phenylalanine to tyrosine. In the absence of functional PAH, phenylalanine accumulates to high levels in the blood and is converted to phenylpyruvate and phenyllactate (Clemens et al. 1990; Langenbeck et al. 1992; Mitchell et al. 2011). The extent of these conversions is modulated by genetic factors distinct from PAH, as siblings with the identical PAH defect can produce different amounts of them (Treacy et al. 1996).

Both L-amino acid oxidase (Boulland et al. 2004) and Kynurenine--oxoglutarate transaminase 3 (Han et al. 2004) can catalyze the conversion of phenylalanine to phenylpyruvate and lactate dehydrogenase can catalyze the conversion of the latter molecule to phenyllactate (Meister 1950), in reactions not annotated here.

Literature References
PubMed ID Title Journal Year
2116554 Plasma concentrations of phenyllactic acid in phenylketonuria

Clemens, PC, Schunemann, MH, Hoffmann, GF, Kohlschutter, A

J Inherit Metab Dis 1990
17356132 Human IL4I1 is a secreted L-phenylalanine oxidase expressed by mature dendritic cells that inhibits T-lymphocyte proliferation

Boulland, ML, Marquet, J, Molinier-Frenkel, V, Moller, P, Guiter, C, Lasoudris, F, Copie-Bergman, C, Baia, M, Gaulard, P, Leroy, K, Castellano, F

Blood 2007
15606768 pH dependence, substrate specificity and inhibition of human kynurenine aminotransferase I

Han, Q, Li, J, Li, J

Eur J Biochem 2004
21555948 Phenylalanine hydroxylase deficiency

Mitchell, JJ, Trakadis, YJ, Scriver, CR

Genet. Med. 2011
8892014 In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings

Treacy, E, Pitt, JJ, Seller, K, Thompson, GN, Ramus, S, Cotton, RG

J Inherit Metab Dis 1996
1583868 A synopsis of the unconjugated acidic transamination metabolites of phenylalanine in phenylketonuria

Langenbeck, U, Behbehani, A, Mench-Hoinowski, A

J Inherit Metab Dis 1992
15421980 Reduction of alpha gamma-diketo and alpha-keto acids catalyzed by muscle preparations and by crystalline lactic dehydrogenase

Meister, A

J Biol Chem 1950
Participants
Participant Of
Disease
Name Identifier Synonyms
phenylketonuria 9281 PKU, maternal phenylketonuria, Følling's disease, phenylalaninemia
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