Abnormal metabolism in phenylketonuria

Edited: D'Eustachio, P, 2012-03-16 Reviewed: Jassal, B, 2012-03-16 Authored: D'Eustachio, P, 2012-03-04 Phenylalanine hydroxylase (PAH) catalyzes the conversion of phenylalanine to tyrosine. In the absence of functional PAH, phenylalanine accumulates to high levels in the blood (Mitchell and Scriver 2010) and is converted to phenylpyruvate and phenyllactate (Clemens et al. 1990; Langenbeck et al. 1992). 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).<p>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 1951). Elevated levels of phenylalanine, phenylpyruvate, and phenyllactate are all thought to contribute to the symptoms of phenylketonuria. One possible target is the metabolism of kynurenine.

http://purl.obolibrary.org/obo/HINO_0016283

Edited: D'Eustachio, P, 2012-03-16

Reviewed: Jassal, B, 2012-03-16

Authored: D'Eustachio, P, 2012-03-04

Phenylalanine hydroxylase (PAH) catalyzes the conversion of phenylalanine to tyrosine. In the absence of functional PAH, phenylalanine accumulates to high levels in the blood (Mitchell and Scriver 2010) and is converted to phenylpyruvate and phenyllactate (Clemens et al. 1990; Langenbeck et al. 1992). 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 1951). Elevated levels of phenylalanine, phenylpyruvate, and phenyllactate are all thought to contribute to the symptoms of phenylketonuria. One possible target is the metabolism of kynurenine.

Pubmed2116554

Pubmed17356132

Reactome, http://www.reactome.org

Pubmed15606768

Pubmed20301677

Pubmed8892014

Pubmed1583868

Abnormal metabolism in phenylketonuria

http://purl.obolibrary.org/obo/NCBITaxon_9606

HINO:0016283

Abnormal metabolism in phenylketonuria

Reactome Database ID Release 432160456

ReactomeREACT_121117

http://purl.obolibrary.org/obo/INO_0000021

http://purl.obolibrary.org/obo/HINO_0008200

http://purl.obolibrary.org/obo/HINO_0008202

http://purl.obolibrary.org/obo/HINO_0024581

http://purl.obolibrary.org/obo/HINO_0008199

http://purl.obolibrary.org/obo/HINO_0024664