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Page 1
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.
Cruz-Camino H, Vazquez-Cantu DL, Zea-Rey AV, López-Valdez J, Jiménez-Lozano J, Gómez-Gutiérrez R, Cantú-Reyna C. Cruz-Camino H, et al. J Int Med Res. 2020 Feb;48(2):300060519863543. doi: 10.1177/0300060519863543. Epub 2019 Jul 25. J Int Med Res. 2020. PMID: 31342835 Free PMC article. Review.
Hawkinsinuria is an autosomal dominant disorder of tyrosine metabolism. ...Persistent metabolic acidosis and failure to thrive are common features in patients with hawkinsinuria. We present the first known Latin American patient diagnosed with hawkinsinuria, …
Hawkinsinuria is an autosomal dominant disorder of tyrosine metabolism. ...Persistent metabolic acidosis and failure to thrive are co …
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Peters V, Bonham JR, Hoffmann GF, Scott C, Langhans CD. Peters V, et al. J Inherit Metab Dis. 2016 Sep;39(5):683-687. doi: 10.1007/s10545-016-9941-1. Epub 2016 May 4. J Inherit Metab Dis. 2016. PMID: 27146437
Over the last few years, detection has clearly improved for tyrosinaemia type I (39 % in 2008 to over 80 % in 2011/2014), maple syrup urine disease (85 % in 2005 to 98 % in 2012), hawkinsinuria (62 % in 2010 to 88 % in 2014), aminoacylase I deficiency (43 % in 2009 to 73 % …
Over the last few years, detection has clearly improved for tyrosinaemia type I (39 % in 2008 to over 80 % in 2011/2014), maple syrup urine …
Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS).
Zhao D, Tian Y, Li X, Ni M, Zhu X, Jia L. Zhao D, et al. J Pediatr Endocrinol Metab. 2020 Apr 28;33(4):563-567. doi: 10.1515/jpem-2019-0498. J Pediatr Endocrinol Metab. 2020. PMID: 32109208
Background Alterations in the structure and activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) are causally related to two different metabolic disorders: recessively inherited tyrosinemia type III and dominantly inherited hawkinsinuria. The aim of this study was to prov …
Background Alterations in the structure and activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) are causally related to two different meta …
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
Thodi G, Schulpis KH, Dotsikas Y, Pavlides C, Molou E, Chatzidaki M, Triantafylli O, Loukas YL. Thodi G, et al. J Pediatr Endocrinol Metab. 2016 Jan;29(1):15-20. doi: 10.1515/jpem-2015-0132. J Pediatr Endocrinol Metab. 2016. PMID: 26226126 Free article.
BACKGROUND: Hawkinsinuria is a rare inborn error of tyrosine metabolism. OBJECTIVES: To study novel hawkinsinuria cases by monitoring their biochemical profile and conducting a mutation analysis. ...CONCLUSIONS: Two mutations of HPD gene, A33T, which are associated …
BACKGROUND: Hawkinsinuria is a rare inborn error of tyrosine metabolism. OBJECTIVES: To study novel hawkinsinuria cases by mon …
Long-term follow up of a new case of hawkinsinuria.
Lehnert W, Stögmann W, Engelke U, Wevers RA, van den Berg GB. Lehnert W, et al. Eur J Pediatr. 1999 Jul;158(7):578-82. doi: 10.1007/s004310051151. Eur J Pediatr. 1999. PMID: 10412819
Hawkinsinuria is a rarely diagnosed autosomal dominantly transmitted inborn error of tyrosine metabolism with impaired conversion of 4-hydroxyphenylpyruvate to homogentisate. ...As the ability to form 4-hydroxycyclohexylacetic acid and thereby to cope with the still not ve …
Hawkinsinuria is a rarely diagnosed autosomal dominantly transmitted inborn error of tyrosine metabolism with impaired conversion of …
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. ...
Hawkinsinuria is a severe inherited condition that has a significant impact on the health of infants. ...
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy.
Wojtowicz P, Zrostlíková J, Kovalczuk T, Schůrek J, Adam T. Wojtowicz P, et al. J Chromatogr A. 2010 Dec 17;1217(51):8054-61. doi: 10.1016/j.chroma.2010.09.067. Epub 2010 Oct 1. J Chromatogr A. 2010. PMID: 20961553
The method has been applied for the analysis of 6 challenging proficiency testing samples from patients with IMDs (thymidine phosphorylase deficiency, mevalonic aciduria, hawkinsinuria, aromatic l-amino acid decarboxylase deficiency, propionic acidemia and medium-chain acy …
The method has been applied for the analysis of 6 challenging proficiency testing samples from patients with IMDs (thymidine phosphorylase d …