Hawkinsinuria

02/01/2020 - "Persistent metabolic acidosis and failure to thrive are common features in patients with hawkinsinuria. "
01/01/2019 - "Hawkinsinuria is an autosomal dominant disease, which presents a failure to thrive and metabolic acidosis; however, the liver is not affected. "
11/01/2016 - "Herein we describe clinical and laboratory findings in two fraternal twins with hawkinsinuria who presented with failure to thrive and metabolic acidosis. "
11/01/2000 - "Patients with hawkinsinuria excrete this metabolite in their urine throughout their life, although symptoms of metabolic acidosis and tyrosinemia improve in the first year of life. "
11/01/2016 - "Hawkinsinuria is a rare disorder of tyrosine metabolism that can manifest with metabolic acidosis and growth arrest around the time of weaning off breast milk, typically followed by spontaneous resolution of symptoms around 1 year of age. "

01/01/2016 - "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 % in 2012) and 3-methylcrotonyl-CoA carboxylase deficiency (60 % in 2005 to 93 % by 2011). "

04/28/2020 - "The aim of this study was to provide a new perspective for the clinical understanding of the pathogenesis of tyrosinemia type III or hawkinsinuria. "
04/28/2020 - "Conclusions The HPD gene may not be a strictly autosomal recessive pathogenic gene, which provides a new perspective for the clinical understanding of the pathogenesis of tyrosinemia type III or hawkinsinuria."
06/01/2019 - "In-Silico analysis of missense SNPs in Human HPPD gene associated with Tyrosinemia type III and Hawkinsinuria."
01/01/2019 - "This causes two different types of diseases with different modes of inheritance: tyrosinemia type III and hawkinsinuria. "
08/01/2007 - "We identified a novel hawkinsinuria mutation, Asn241Ser, and a known tyrosinemia type III mutation, Ile335Met, in trans configuration. "

07/08/1983 - "A second Australian family with the genetic disease Hawkinsinuria has been identified. "
01/01/2003 - "Mutations in the HPD locus are related to two known distinct diseases: hereditary tyrosinemia type 3 and hawkinsinuria. "
06/01/2019 - "A single change in protein can trigger serious genetic disorders like Tyrosinemia type III and Hawkinsinuria. "

02/01/2020 - "Persistent metabolic acidosis and failure to thrive are common features in patients with hawkinsinuria. "
01/01/2019 - "Hawkinsinuria is an autosomal dominant disease, which presents a failure to thrive and metabolic acidosis; however, the liver is not affected. "
11/01/2016 - "Herein we describe clinical and laboratory findings in two fraternal twins with hawkinsinuria who presented with failure to thrive and metabolic acidosis. "