Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion
- 1 August 1990
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 38 (2) , 155-159
- https://doi.org/10.1111/j.1399-0004.1990.tb03565.x
Abstract
Somatic mosaicism for a deletion in the ornithine transcarbamylase gene is described in a boy with sporadic late onset ornithine transcarbamylase deficiency. These findings are discussed in relation to the clinical picture of the patient and in relation to genetic counseling.Keywords
This publication has 9 references indexed in Scilit:
- Late onset ornithine carbamoyl transferase deficiency in males.Archives of Disease in Childhood, 1988
- Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1988
- Structure of the Human Ornithine Transcarbamylase Gene1The Journal of Biochemistry, 1988
- ALLOPURINOL (AP) INDUCED OROTIDINURIA (ODNU): A TEST OF HETEROZYGOSITY FOR ORNITHINE TRANS-CARBAHYLASE (OTC) DEFICIENCYPediatric Research, 1987
- DNA analysis for ornithine transcarbamylase deficiencyJournal of Inherited Metabolic Disease, 1986
- Risk of serious illness in heterozygotes for ornithine transcarbamylase deficencyThe Journal of Pediatrics, 1986
- Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine TranscarbamylaseScience, 1984
- Ornithine trascarbamylase deficiencies in human males Kinetic and immunochemical classificationBiochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1982
- Carrier detection in ornithine transcarbamylase deficiencyThe Journal of Pediatrics, 1978