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Summary
HAWKINSINURIA
4-@HYDROXYPHENYLPYRUVATE HYDROXYLASE DEFICIENCY
140350
OMIM = Online Medalian Inheritance of Men
2118
12q24.31
  • low-protein diet
  • vitamin C (ascorbate)
very rare
autosomal dominant
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD) are responsible for tyrosinemia type III and hawkinsinuria [Tomoeda K et al. 2000]
symptoms
failure to thrive
ketosis, ketoacidosis
mental retardation
metabolic acidosis
no clinical signs or symptoms
swimming pool odor
laboratory finding
4-Hydroxycyclohexylacetic acid10.0070.000.002.00mmol/mol creatinineurine
Hawkinsin0.000.000.000.00increasedurineadult
5-Oxoproline1300.009000.0042.00115.00mmol/mol creatinineurine
4-Hydroxyphenyllactic acid1000.005000.00 mmol/mol creatinineurineno data
Hawkinsin increasedplasma
4-Hydroxyphenylpyruvic acid170.001600.000.002.00mmol/mol creatinineurine
L-Tyrosine150.00450.0038.00147.00-Ámol/lplasma
pH7.007.407.357.45no unitblood
Bicarbonate10.0014.0024.0027.00mmol/lblood
p-Hydroxyphenylacetic acid0.000.00 mmol/mol Creaurineno data
Literature
Ferdinandusse Set al.Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiencyJ Lipid Res421137-1412001
Tumer ZBirk Moller L, Horn NScreening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7AHum Mutat226457-4642003
Van Veldhoven PPet al.Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiencyEur J Clin Invest318714-7222001
Hsi GCox DWA comparison of the mutation spectra of Menkes disease and Wilson diseaseHum Genet1142165-1722004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Ferdinandusse Set al.Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyNat Genet242188-1912000
Bull PCCox DWWilson disease and Menkes disease: new handles on heavy-metal transportTrends Genet107246-2521994
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991