orotic aciduria Path.
(ɒˌrɒtɪk æsɪˈdjuːrɪə)
Also as one word.
[f. orotic acid (see prec.) + -uria.]
A rare genetic disorder in which an enzyme deficiency impairs the metabolism of orotic acid, resulting in anæmia and excessive amounts of the acid in the blood and urine. Hence oˌrotic aciˈduric a.
| 1959 Smith & Baker in Jrnl. Clin. Invest. XXXVIII. 798/1 Only recently has a ‘pyrimidine disease’, orotic aciduria, been described. 1961 Ibid. XL. 662/2 No large survey has..been undertaken to document the true incidence of the orotic aciduric defect. 1962 Jrnl. Laboratory & Clin. Med. LIX. 852 The family of an infant with congenital oroticaciduria excreted normal amounts of pseudouridine. 1972 F. Nour-Eldin Haematol. xxi. 218/2 Hereditary orotic aciduria is a rare disorder of the pyrimidine metabolism with megaloblastic anaemia, refractory to vitamin B12 but responding to uridine. |