Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion

E Legius; E Baten; M Stul; P Marynen; J J Cassiman

doi:10.1111/j.1399-0004.1990.tb03565.x

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion

Clin Genet. 1990 Aug;38(2):155-9. doi: 10.1111/j.1399-0004.1990.tb03565.x.

Authors

E Legius¹, E Baten, M Stul, P Marynen, J J Cassiman

Affiliation

¹ Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

PMID: 2208768
DOI: 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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Metabolism, Inborn Errors / genetics*
Ammonia / blood
Child, Preschool
Chromosome Deletion*
DNA Probes
Humans
Male
Mosaicism*
Ornithine Carbamoyltransferase / genetics
Ornithine Carbamoyltransferase Deficiency Disease*
Restriction Mapping

Substances

DNA Probes
Ammonia
Ornithine Carbamoyltransferase