TYPE I TYROSINEMIAS
\tˈa͡ɪp a͡ɪ tˌa͡ɪɹəsa͡ɪnˈiːmi͡əz], \tˈaɪp aɪ tˌaɪɹəsaɪnˈiːmiəz], \t_ˈaɪ_p aɪ t_ˌaɪ_ɹ_ə_s_aɪ_n_ˈiː_m_iə_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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basidiomycota
- comprises fungi bearing the spores on basidium: Gasteromycetes (puffballs); Tiliomycetes (comprising orders Ustilaginales (smuts) and Uredinales (rusts)); Hymenomycetes (mushrooms; toadstools; agarics; bracket fungi); in some classification systems considered a division of kingdom comprises fungi bearing spores on a basidium; includes Gasteromycetes (puffballs) Tiliomycetes comprising the orders Ustilaginales (smuts) and Uredinales (rusts) Hymenomycetes (mushrooms, toadstools, agarics bracket fungi).
Nearby Words
- type i nonketotic hyperglycinemia
- type i procollagen
- type i renal tubular acidosis
- type i spinal muscular atrophy
- type i tyrosinemia
- Type I Tyrosinemias
- type ii antifreeze proteins
- type ii arnold chiari malformation
- type ii ataxia with lactic acidosis
- type ii canavan disease
- type ii cockayne syndrome