scholarly journals Hereditary Orotic Aciduria

2020 ◽  
Author(s):  
Keyword(s):  
Orotic Aciduria

Cellular Immune Deficiency in Two Siblings with Hereditary Orotic Aciduria

1983 ◽  
Vol 308 (12) ◽  
pp. 700-704 ◽  
Author(s):  
Robert Girot ◽  
Michèle Hamet ◽  
Jean-Louis Perignon ◽  
Michel Guesnu ◽  
Richard M. Fox ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Orotic Aciduria ◽  
Cellular Immune

Orotic aciduria

2020 ◽  
pp. 544-547
Author(s):  
Christian Staufner
Keyword(s):  
Orotic Aciduria

HYPERAMMONEMIA DUE TO A DEFECT IN HEPATIC ORNITHINE TRANSCARBAMYLASE

PEDIATRICS ◽  
1972 ◽  
Vol 50 (1) ◽  
pp. 100-111
Author(s):  
Philip Sunshine ◽  
Jeffrey E. Lindenbaum ◽  
Harvey L. Levy ◽  
John M. Freeman
Keyword(s):  
Citric Acid ◽  
Dietary Protein ◽  
Clinical Condition ◽  
Growth And Development ◽  
Hepatic Dysfunction ◽  
Hepatic Function ◽  
Ornithine Transcarbamylase ◽  
Red Cell ◽  
Low Protein ◽  
Orotic Aciduria

A 9-year-old girl with vomiting, changes in behavior, coma, and evidence of hepatic dysfunction at 3½ years of age was found to have hyperammonemia and decreased activity of liver ornithine transcarbamylase. When her dietary protein was reduced, she had improvement in her clinical condition and a return to normal of all hepatic function indices. Despite a defect in an enzyme of ornithine metabolism, she did not have hyperaminoacidemia, specifically hyperornithinemia, even when she had hyperammonemia. When she ingested a large amount of ornithine (300 mg/kg) she developed hyperornithinemia and hyperornithinuria. She also had orotic aciduria despite having normal activities of red cell orotidylic decarboxylase and pyrophosphorylase. Treatment with a low protein diet and citric acid supplements has been successful in preventing hyperammonemia and promoting growth and development.

scholarly journals Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

2017 ◽  
Vol 40 (3) ◽  
pp. 423-431 ◽  
Author(s):  
Saskia B. Wortmann ◽  
◽  
Margaret A. Chen ◽  
Roberto Colombo ◽  
Alessandro Pontoglio ◽  
...  
Keyword(s):  
Orotic Aciduria ◽  
Clinical Consequences

scholarly journals Congenital Familial Megaloblastic Anemia

Blood ◽  
1971 ◽  
Vol 37 (6) ◽  
pp. 615-623 ◽  
Author(s):  
BEATRICE C. LAMPKIN ◽  
ALLAN PYESMANY ◽  
CAROL B. HYMAN ◽  
DENMAN HAMMOND
Keyword(s):  
Bone Marrow ◽  
Folic Acid ◽  
Dna Synthesis ◽  
Vitamin B12 ◽  
Megaloblastic Anemia ◽  
Vitamin Deficiency ◽  
Preliminary Step ◽  
Orotic Aciduria

Abstract Two sisters with a previously unreported megaloblastic anemia unassociated with a deficiency of either folic acid or vitamin B12 are described. Deficiencies of these vitamins were ruled out by standard studies. All other previously reported forms of megaloblastic anemia not secondary to a vitamin deficiency, such as orotic aciduria, were also excluded by appropriate studies. Optimal hemoglobin responses were obtained after the administration of large amounts of both vitamin B12 and folic acid. Because of this hemoglobin response, the conversion of deoxyuridine-5-monophosphate to deoxythymidine-5-monophosphate in vitro was examined in bone marrow samples from both patients using a modification of a method described by Killmann.18 This preliminary step in DNA synthesis was found to be normal. The results of this test and the optimal hemoglobin response after administration of both vitamins suggest that both folic acid and vitamin B12 may be necessary at some other preliminary step in DNA synthesis.

An HPLC-linked non-radiochemical assay of OPRT and ODC activity in erythrocytes: One case of orotic aciduria

1997 ◽  
Vol 30 (3) ◽  
pp. 270
Author(s):  
V. Micheli ◽  
G. Jacomelli ◽  
E. Zammarchi ◽  
G. Pompucci
Keyword(s):  
Orotic Aciduria
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