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  2. Tyrosinemia - Wikipedia

    en.wikipedia.org/wiki/Tyrosinemia

    Type I tyrosinemia can be detected via blood tests for the presence of a fumarylacetoacetate metabolite, succinylacetone, which is considered a pathognomonic indicator for the disease. [ 6 ] Type II tyrosinemia can be detected via the presence of significantly elevated plasma tyrosine levels, and the diagnosis can be confirmed by detection of a ...

  3. Tyrosinemia type I - Wikipedia

    en.wikipedia.org/wiki/Tyrosinemia_type_I

    Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine, resulting in damage primarily to the liver along with the kidneys and peripheral nerves. [1] The inability of cells to process tyrosine can lead to chronic liver damage ending in liver failure , as well as renal disease and rickets .

  4. Tyrosinemia type II - Wikipedia

    en.wikipedia.org/wiki/Tyrosinemia_type_II

    Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT.Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy.

  5. Tyrosine aminotransferase - Wikipedia

    en.wikipedia.org/wiki/Tyrosine_aminotransferase

    Tyrosinemia is the most common metabolic disease associated with tyrosine aminotransferase. The disease results from a deficiency in hepatic tyrosine aminotransferase. [ 10 ] Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental ...

  6. List of disorders included in newborn screening programs

    en.wikipedia.org/wiki/List_of_disorders_included...

    Blood cell disorders. Variant hemoglobinopathies (including Hb E) [1] Glucose-6-phosphate dehydrogenase deficiency (G6PD) Inborn errors of amino acid metabolism. Tyrosinemia II [1] Argininemia [1] Benign hyperphenylalaninemia; Defects of biopterin cofactor biosynthesis [1] Defects of biopterin cofactor regeneration [1] Tyrosinemia III [1 ...

  7. What Is Low Testosterone & What Causes It? - AOL

    www.aol.com/low-testosterone-causes-125700734.html

    They may also run a number of blood tests before diagnosing low testosterone. These tests include: A total testosterone test. This test measures your protein-bound and unbound (free) testosterone ...

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