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Pathways
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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria pathway  
2-hydroxyglutaric aciduria pathway  
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway  
3-hydroxyisobutyric aciduria pathway  
adrenoleukodystrophy pathway  
AGAT deficiency pathway  
alkaptonuria pathway  
aromatic L-amino acid decarboxylase deficiency pathway  
Canavan disease pathway  
carnosinemia pathway  
dimethylglycine dehydrogenase deficiency pathway  
ethylmalonic encephalopathy pathway  
GABA aminotransferase deficiency pathway  
galactosemias pathway +   
glutaric aciduria type I pathway  
glutathione synthase deficiency pathway  
glutathionuria disease pathway  
glycine N-methyltransferase deficiency pathway  
Hartnup disease pathway  
hawkinsinuria pathway  
hereditary central nervous system demyelinating disease pathway +   
histidinemia pathway  
homocarnosinosis pathway  
hyperhomocysteinemia pathway +   
hyperlysinemia pathway +   
hypermethioninemia pathway  
hypermethioninemia pathway  
hyperprolinemia type I pathway  
hyperprolinemia type II pathway  
inborn error of urea cycle pathway +   
isobutyryl-CoA dehydrogenase deficiency pathway  
isovaleric acidemia pathway  
Leigh disease pathway  
Lesch-Nyhan syndrome pathway  
lysinuric protein intolerance pathway  
maple syrup urine disease pathway  
mercaptolactate-cysteine disulfiduria pathway  
methylmalonate semialdehyde dehydrogenase deficiency pathway  
methylmalonic acidemia pathway +   
mevalonic aciduria pathway  
multiple carboxylase deficiency pathway +   
nervous system lysosomal storage disease pathway +   
nonketotic hyperglycinemia pathway  
ornithine carbamoyltransferase deficiency pathway  
phenylketonuria pathway  
A group of autosomal recessive disorders resulting from alterations in amino acid metabolism, mostly due to deficiency of hepatic phenylalanine hydroxylase. The enzyme catalyzes the hydroxylation of phenylalanine to tyrosine.
prolidase deficiency pathway  
propionic acidemia pathway  
Refsum disease pathway  
sarcosinemia pathway  
succinic semialdehyde dehydrogenase deficiency pathway  
sulfite oxidase deficiency pathway  
tyrosinemia pathway +   

Synonyms
Exact Synonyms: Følling's disease pathway ;   PKU pathway ;   phenylalaninemia pathway ;   phenylketonuria disease pathway
Related Synonyms: Phenylketonuria
Alternate IDs: SMP:00206
Definition Sources: OMIM:261600

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