ARGININEMIA
\ˌɑːd͡ʒɪna͡ɪnˈiːmi͡ə], \ˌɑːdʒɪnaɪnˈiːmiə], \ˌɑː_dʒ_ɪ_n_aɪ_n_ˈiː_m_iə]\
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.