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Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.
Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F. Tomoeda K, et al. Mol Genet Metab. 2000 Nov;71(3):506-10. doi: 10.1006/mgme.2000.3085. Mol Genet Metab. 2000. PMID: 11073718
We performed analyses of the HPD gene in a patient with tyrosinemia type III and two unrelated patients with hawkinsinuria. A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia …
We performed analyses of the HPD gene in a patient with tyrosinemia type III and two unrelated patients with hawkinsinuria. A homozyg …
Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.
Brownlee JM, Heinz B, Bates J, Moran GR. Brownlee JM, et al. Biochemistry. 2010 Aug 24;49(33):7218-26. doi: 10.1021/bi1008112. Biochemistry. 2010. PMID: 20677779
Hawkinsinuria is a severe inherited condition that has a significant impact on the health of infants. ...The N to S variant undergoes an apparent three-step binding mechanism with NTBC that forms with rate constants similar to those observed for the wild-type enzyme …
Hawkinsinuria is a severe inherited condition that has a significant impact on the health of infants. ...The N to S variant undergoes …