FUMARYLACETOACETASE DEFICIENCY DISEASES
\fjˈuːmɑːɹˌɪlɐsˌɛtə͡ʊsˌɛte͡ɪs dɪfˈɪʃənsi dɪzˈiːzɪz], \fjˈuːmɑːɹˌɪlɐsˌɛtəʊsˌɛteɪs dɪfˈɪʃənsi dɪzˈiːzɪz], \f_j_ˈuː_m_ɑː_ɹ_ˌɪ_l_ɐ_s_ˌɛ_t_əʊ_s_ˌɛ_t_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z_ɪ_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
- fumaric acid
- fumaric aminase
- fumarine
- fumarole
- fumarylacetoacetase deficiency disease
- Fumarylacetoacetase Deficiency Diseases
- fumatorium
- fumatory
- fumbl
- fumble
- fumbled