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Summary
TYROSINEMIA II
OREGON TYPE. RICHNER-HANHART SYNDROME. OCULOCUTANEOUS TYROSINEMIA
276600
OMIM = Online Medalian Inheritance of Men
28378
16q22.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • low-protein diet
  • phenylalanine-restricted diet
  • tyrosine-restricted diet
rare (<1:1000000)
autosomal recessive
symptoms
behavior, hyperactive, restless
cataract
corneal clouding
corneal deposits
glaucoma
growth retardation
hyperkeratosis
hyperlacrimation
keratitis
mental retardation
microcephaly (<2 SD for age)
microcornea
photophobia or photosensitive defect in light-exposed area
skin defects
laboratory finding
p-Hydroxyphenylacetic acid50.00200.006.0028.00mmol/mol creatinineurinechild
4-Hydroxyphenyllactic acid50.00200.00 mmol/mol creatinineurineno data
4-Hydroxyphenylpyruvic acid50.00100.000.002.00mmol/mol creatinineurinechild
N-Acetyltyrosine30.00200.000.002.00mmol/mol creatinineurine
L-Tyrosine150.00450.0055.00147.00+Ôé¼mol/lplasmanewborn
4-Hydroxycyclohexylacetic acid0.000.00 increasedurineno data
Literature
Oostra RJet al.Lebers hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcomeJ Med Genet314280-2861994
Majander Aet al.Congenital aplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletionPediatr Res304327-3301991
Marklova EMakovickova H, Krakorova IScreening for defects in tryptophan metabolismJ Chromatogr A8700289-2932000
Wilmshurst JMet al.Chronic axonal neuropathy with triosephosphate isomerase deficiencyPediatr Neurol. 2004 Feb30(2):146-8302146-1482004
Snedden WMellor CS, Martin JRHypertryptophanemia and indoleketonuria in two mentally subnormal siblingsN Engl J Med3072214051982
Meire GMet al.Clinical and genetical manifestations in 34 families with Lebers hereditary optic neuropathy (LHON)Bull Soc Belge Ophtalmol2540137-1461994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Snedden WMellor CS, Martin JRFamilial hypertryptophanemia, tryptophanuria and indoleketonuriaClin Chim Acta1310247-2561983