Tyrosine Beyond the identification of physical clinical symptoms outlined above, the definitive criterion for diagnostic assessment of<unk>  is elevated succinylacetone (SA) in blood and urine. Elevated SA levels are not associated with any other known medical condition, so there is minimal risk of misdiagnosis. Quantitation of tyrosine levels is also used as a diagnostic but is less reliable due to high false positive and false negative rates. Newborns are not generally screened for HT1 due to rarity of the condition and lack of apparent symptoms at time of birth. However, prompt assessment upon the manifestation of physical symptoms such as fever, vomiting, increased tendency to bleed, diarrhea along with bloody feces, and jaundice is critical for improving long term prognosis.
Tyrosinemia type I
Aspartylglucosaminuria
Hawkinsinuria
Aldolase A deficiency
Essential fructosuria
Transaldolase deficiency
Phenylketonuria
Cystathioninuria