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Hereditary orotic aciduria, type 1

Known as: OPRT AND ODC DEFICIENCY, Uridine monophosphate synthetase deficiency, Oroticaciduria 1 
National Institutes of Health

Related topics

Related topics

7 relations
Anemia, MegaloblasticAutosomal recessive inheritanceHematuriaUMPS gene

Broader (2)

OROTATE PHOSPHORIBOSYLTRANSFERASEOROTIDINE-5'-PHOSPHATE DECARBOXYLASE

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
1999
1999
Fatal genetic defect causing Wolman disease
Tested mothers carrying the OCT mutations were asymptomatic or a†ected to a much milder degree than their a†ected daughters. They… 
Highly Cited
1983
Highly Cited
1983
Cellular immune deficiency in two siblings with hereditary orotic aciduria.
HEREDITARY orotic aciduria is a rare inborn error of pyrimidine metabolism that is associated with autosomal recessive… 
1981
1981
Orotic Aciduria in Lysinuric Protein Intolerance: Dependence on the Urea Cycle Intermediates
Summary: Urinary excretion of orotic acid was measured in controls and in subjects homozygous and heterozygous for lysinuric… 
1981
1981
Ammonia metabolism in a family affected by hyperargininemia.
A French-Canadian family, with a 14-year old mentally retarded girl, was investigated for hyperargininemia. The girl showed a… 
1973
1973
The orotic aciduria of pregnancy.
Review
1970
Review
1970
HEREDITARY OROTIC ACIDURIA
A case of orotic aciduria is reported and the clinical features reviewed. Replacement therapy with uridine achieved a striking… 
1969
1969
Hybridization of two biochemically marked human cell lines.
A hybrid cell line of clonal origin has been obtained by cocultivation of two biochemically marked human cell strains. One… 
1969
1969
Orotic aciduria. Differing enzyme patterns.
1966
1966
In vivo effect of hydroxyurea on orotic acid synthesis.
Hydroxyurea is thought to inhibit DNA synthesis but the site of inhibition has not been established. The urinary excretion of… 
1964
1964
A GENETIC STUDY OF HEREDITARY OROTIC ACIDURIA.
HEREDITARY orotic aciduria is a disorder of pyrimidine metabolism manifested by megaloblastic anemia, leukopenia, retarded growth… 
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