KEGG   DISEASE: Hawkinsinuria
Entry
H02936                      Disease                                
Name
Hawkinsinuria
Description
Hawkinsinuria is a rare autosomal dominant disorder of tyrosine metabolism characterized by persistent metabolic acidosis and failure to thrive. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) result in an altered HPD enzyme, causing hawkinsin and tyrosine accumulation.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H02936  Hawkinsinuria
Gene
HPD [HSA:3242] [KO:K00457]
Other DBs
ICD-11: 5C50.1Y
MeSH: C535845
OMIM: 140350
Reference
PMID:11073718
  Authors
Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F
  Title
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.
  Journal
Mol Genet Metab 71:506-10 (2000)
DOI:10.1006/mgme.2000.3085
Reference
PMID:31342835
  Authors
Cruz-Camino H, Vazquez-Cantu DL, Zea-Rey AV, Lopez-Valdez J, Jimenez-Lozano J, Gomez-Gutierrez R, Cantu-Reyna C
  Title
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.
  Journal
J Int Med Res 48:300060519863543 (2020)
DOI:10.1177/0300060519863543
Reference
PMID:26226126
  Authors
Thodi G, Schulpis KH, Dotsikas Y, Pavlides C, Molou E, Chatzidaki M, Triantafylli O, Loukas YL
  Title
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
  Journal
J Pediatr Endocrinol Metab 29:15-20 (2016)
DOI:10.1515/jpem-2015-0132
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