orotic acidurian.

Brit.

/ɒˌrɒtɪk asᵻˈdjʊərɪə/,

/ɒˌrɒtɪk asᵻˈdʒʊərɪə/, U.S.

/ɔˌrɑdɪk ˌæsəˈdʊriə/; see also orotic adj.

Origin: Formed within English, by compounding. Etymons: orotic acid n. at orotic adj., -uria comb. form.

Etymology: < orotic acid n. at orotic adj. + -uria comb. form.

Medicine.

Excessive excretion of orotic acid in the urine; spec. a genetic (autosomal recessive) disorder of pyrimidine metabolism in humans, in which deficient activity of the enzyme uridine monophosphate synthase, which catalyses the two-step conversion of orotic acid to uridine monophosphate, results in the accumulation of orotic acid and in megaloblastic anaemia that responds to uridine administration.

ΘΚΠ

the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [noun] > other metabolic disorders

xanthomatosis1900

Tay-Sachs1907

ketosis1917

protein shock1917

hyperinsulinism1924

Niemann–Pick1928

tyrosinosis1932

von Gierke's disease1933

phenylketonuria1935

cystic fibrosis1938

mucoviscidosis1945

cystinosis1949

oxalosis1952

McArdle1957

orotic aciduria1959

PKU1961

sphingolipidosis1962

Reye's syndrome1965

Menkes1969

1959 Jrnl. Clin. Investig. 38 798/1 Only recently has a ‘pyrimidine disease’, orotic aciduria, been described.

1962 Jrnl. Lab. & Clin. Med. 59 852 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.

1987 Jrnl. Inherited & Metabolic Dis. 10 201 Deficiency of uridine-5′-monophosphate (UMP) synthase in dairy cattle, a condition analogous to human hereditary orotic aciduria, is reviewed.

1991 Amer. Jrnl. Clin. Nutrition 53 1242 (title) Mild orotic aciduria and uricosuria in severe trauma victims.

2002 Jrnl. Nutrition 132 3715 Dietary arginine restriction causes orotic aciduria and abnormal function of the urea cycle.

Derivatives

oˌrotic aciˈduric adj.

ΘΚΠ

the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [adjective] > other metabolic disorders

von Gierke1933

ketotic1943

cystinotic1961

orotic aciduric1961

phenylketonuric1961

1961 Jrnl. Clin. Investig. 40 662/2 No large survey has..been undertaken to document the true incidence of the orotic aciduric defect.

1986 Jrnl. Nutrition 116 59 Shunted rats were consistently hyperammonemic and orotic aciduric compared to controls.

This entry has been updated (OED Third Edition, September 2004; most recently modified version published online March 2022).

单词	orotic aciduria
释义	orotic acidurian. Brit. /ɒˌrɒtɪk asᵻˈdjʊərɪə/, /ɒˌrɒtɪk asᵻˈdʒʊərɪə/, U.S. /ɔˌrɑdɪk ˌæsəˈdʊriə/; see also orotic adj. Origin: Formed within English, by compounding. Etymons: orotic acid n. at orotic adj., -uria comb. form. Etymology: < orotic acid n. at orotic adj. + -uria comb. form. Medicine. Excessive excretion of orotic acid in the urine; spec. a genetic (autosomal recessive) disorder of pyrimidine metabolism in humans, in which deficient activity of the enzyme uridine monophosphate synthase, which catalyses the two-step conversion of orotic acid to uridine monophosphate, results in the accumulation of orotic acid and in megaloblastic anaemia that responds to uridine administration. ΘΚΠ the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [noun] > other metabolic disorders xanthomatosis1900 Tay-Sachs1907 ketosis1917 protein shock1917 hyperinsulinism1924 Niemann–Pick1928 tyrosinosis1932 von Gierke's disease1933 phenylketonuria1935 cystic fibrosis1938 mucoviscidosis1945 cystinosis1949 oxalosis1952 McArdle1957 orotic aciduria1959 PKU1961 sphingolipidosis1962 Reye's syndrome1965 Menkes1969 1959 Jrnl. Clin. Investig. 38 798/1 Only recently has a ‘pyrimidine disease’, orotic aciduria, been described. 1962 Jrnl. Lab. & Clin. Med. 59 852 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. 1987 Jrnl. Inherited & Metabolic Dis. 10 201 Deficiency of uridine-5′-monophosphate (UMP) synthase in dairy cattle, a condition analogous to human hereditary orotic aciduria, is reviewed. 1991 Amer. Jrnl. Clin. Nutrition 53 1242 (title) Mild orotic aciduria and uricosuria in severe trauma victims. 2002 Jrnl. Nutrition 132 3715 Dietary arginine restriction causes orotic aciduria and abnormal function of the urea cycle. Derivatives oˌrotic aciˈduric adj. ΘΚΠ the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [adjective] > other metabolic disorders von Gierke1933 ketotic1943 cystinotic1961 orotic aciduric1961 phenylketonuric1961 1961 Jrnl. Clin. Investig. 40 662/2 No large survey has..been undertaken to document the true incidence of the orotic aciduric defect. 1986 Jrnl. Nutrition 116 59 Shunted rats were consistently hyperammonemic and orotic aciduric compared to controls. This entry has been updated (OED Third Edition, September 2004; most recently modified version published online March 2022). < n.1959
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