ARGINASE DEFICIENCY DISEASE
\ˈɑːd͡ʒɪnˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \ˈɑːdʒɪnˌeɪs dɪfˈɪʃənsi dɪzˈiːz], \ˈɑː_dʒ_ɪ_n_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme type I ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91 (1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
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Nearby Words
- argillo-ferruginous
- argillous
- arginase
- arginase a1
- arginase a4
- Arginase Deficiency Disease
- arginase deficiency diseases
- arginin
- arginine
- arginine carboxypeptidase
- arginine kinase