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Summary
TYROSINEMIA, TRANSIENT, OF THE NEWBORN
TYROSINE METABOLISM, DELAYED MATURATION IN
3402
  • low-protein diet
  • vitamin C (ascorbate)
most frequent disorder of amino acid metabolism
reduced incidence by adequate protein intake in the newborn/preterm
symptoms
Amino acids, plasma
lethargy, drowsiness, malaise or sleep disorder
no clinical signs or symptoms
Organic acids, urine
laboratory finding
L-Tyrosine200.001000.0038.00147.00+Ôé¼mol/lplasmanewborn
p-Hydroxyphenylacetic acid50.00200.006.0028.00mmol/mol creatinineurine
4-Hydroxyphenyllactic acid50.00200.000.1011.50mmol/mol creatinineurine
4-Hydroxyphenylpyruvic acid50.00100.000.1021.30mmol/mol creatinineurine
Literature
Parrish JEet al.A muscle-specific DNase I-like gene in human Xq28Hum Mol Genet491557-15641995
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Lagman-Bartolome AM,Lay CPediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcomeCurr Neurol Neurosci Rep156342015
Gordon BAGatfield DP, Haust MDThe hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplementsClin Invest Med100329-3361987