Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement.
D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000172:deficiency*; D001259:Ataxia / Q000150:complications*; D002908:Chronic Disease; D003600:Cytosol / Q000201:enzymology; D005260:Female; D005969:Glutamate Dehydrogenase / Q000378:metabolism; D006801:Humans; D007223:Infant; D007770:L-Lactate Dehydrogenase / Q000378:metabolism; D008099:Liver / Q000201:enzymology*; D008930:Mitochondria, Liver / Q000201:enzymology; D010105:Oxygenases / Q000172:deficiency*; D010734:Phosphogluconate Dehydrogenase / Q000378:metabolism; D014443:Tyrosine / Q000097:blood*; D014444:Tyrosine Transaminase / Q000378:metabolism
D014443:Tyrosine; D007770:L-Lactate Dehydrogenase; D010734:Phosphogluconate Dehydrogenase; D010105:Oxygenases; D015111:4-Hydroxyphenylpyruvate Dioxygenase; D005969:Glutamate Dehydrogenase; D014444:Tyrosine Transaminase