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Summary
TYROSINEMIA III
4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY
276710
OMIM = Online Medalian Inheritance of Men
69723
12q24.31
  • tyrosine-restricted diet
  • vitamin C (ascorbate)
rare (<1:1000000)
autosomal recessive
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD) are responsible for tyrosinemia type III and hawkinsinuria [Tomoeda K et al. 2000]
symptoms
Amino acids, plasma
ataxia
cerebral atrophy
lethargy, drowsiness, malaise or sleep disorder
mental retardation
Organic acids, urine
seizures
laboratory finding
Tyrosine500.001000.0055.00147.00+Ôé¼mol/lplasmanewborn
4-Hydroxyphenylacetic acid20.00200.006.0028.00mmol/mol creatinineurine
4-Hydroxyphenyllactic acid20.002300.000.1011.50mmol/mol creatinineurine
4-Hydroxyphenylpyruvic acid20.00500.000.1021.30mmol/mol creatinineurine
MRI, brain, abnormalities -
Literature
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Poggi-Travert Fet al.Clinical approach to inherited peroxisomal disordersJ Inher Met Dis Suppl1801-181995
Ationu AHumphries AThe feasibility of replacement therapy for inherited disorder of glycolysis: triosephosphate isomerase deficiency (review)Int J Mol Med26701-7041998
Goncalves Iet al.Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiencyJ Hepatol233290-2941995
Sweetman LWilliams JCBranched chain organic aciduriasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101387-14491995
Sweetman LWilliams JCBranched chain organic aciduriasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101387-14491995
Ationu Aet al.Towards enzyme-replacement treatment in triosephosphate isomerase deficiencyLancet35301155-11561999
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kraus JPKomrover Lecture. Molecular basis of phenotype expression in homocystinuriaJ Inherit Metab Dis174383-3901994
Bull PCCox DWWilson disease and Menkes disease: new handles on heavy-metal transportTrends Genet107246-2521994