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Diagnosis and Treatment of OTC Deficiency
2004We have dealt with a number of issues in the diagnosis and treatment of OTC deficiency in previous chapters. Chapter 5 reviews the use of RFLPs(226,228,233) and DNA(225,227,232-234,240) analyses in diagnosis and introduces the use of allopurinol in testing for the carrier state(241).
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Molecular Pathology of OTC Deficiency
2004The diagnosis of OTC deficiency is made by assay of OTC activity in the liver of an affected proband, or by measurement of orotic acid +/orotidine excretion in the urine after a protein or amino acid load or after a single dose of allopurinol in a proband or suspected carrier (see Chapter 8 for details).
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Clinical and Laboratory Findings in OTC Deficiency
2004We have collected most of the reported cases of OTC deficiency between 1962, when the first case was reported, through 2002. We searched Index Medicus(Pub Med)and Reference Update(ISI) for the keywords ornithine transcarbam(yl)(oyl)ase, ornithine carbam( yl)(oyl) transferase, and other keywords for elements of the urea or ornithine cycle in articles ...
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Variability of OTC deficiency in heterozygous carriers: Case report of a family
Journal of Pediatric Biochemistry, 2016We present three case reports of a family affected by ornithine transcarbamylase deficiency (OTC-D), the most common urea cycle disorder. The case reports demonstrate the variable clinical phenotype of OTC-D in heterozygous carriers, even in one family. Based on these reports, OTC-D and its biochemical hallmarks are discussed.
Staufner, Christian +3 more
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The Study of Organic Acids Metabolism in a Patient with Ornithine Transcarbamylase (OTC) Deficiency
1982The formation of glutamate from ammonia and α-ketoglutarate (α-KG) is one of major pathways to remove excessive ammonia. This pathway is especially important in the urea cycle enzymopathies. It has been reported that the plasma α-KG concentration was increased in the patients with chronic hepatic dysfunctions, Reye’s syndrome and fulminent hepatic ...
H, Kodama +3 more
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Animal Models of OTC Deficiency and Their Gene Therapy
2004In 1976 Demars(148) reported that a sparse fur mouse whose phenotype was due to an X-chromosomal defect was prone to develop bladder stones which on analysis turned out to be orotic acid. Because orotic aciduria occurs in human OTC deficiency, OTC activities of the livers of these sparse fur (spf) mice were assayed and it was found that they indeed had
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Successful treatment of severe OTC deficiency
The Journal of Pediatrics, 1982A M, Brubakk +3 more
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OTC Deficiency in Females: Phenotype-Genotype Correlation Based on a 130-Family Cohort
Journal of Inherited Metabolic Disease, 2021Julie Steffann +2 more
exaly
Hemizygous Deletion in the OTC Gene Results in Ornithine Transcarbamylase Deficiency: A Case Report
World Journal of Clinical Cases, 2022Fan Yang, Liping Wang, Houzhong Luo
exaly