TYROSINE TRANSAMINASE DEFICIENCY DISEASE
\tˈa͡ɪɹəsˌa͡ɪn tɹansˈamɪnˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \tˈaɪɹəsˌaɪn tɹansˈamɪnˌeɪs dɪfˈɪʃənsi dɪzˈiːz], \t_ˈaɪ_ɹ_ə_s_ˌaɪ_n t_ɹ_a_n_s_ˈa_m_ɪ_n_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
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Nearby Words
- tyrosine phosphatase
- tyrosine protein kinase
- tyrosine specific protein kinase
- tyrosine specific trna
- tyrosine transaminase
- Tyrosine Transaminase Deficiency Disease
- tyrosine trna ligase
- tyrosine, l isomer
- tyrosinemia
- tyrosinemias
- tyrosinuria