Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.
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.
Legius
E
E
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
Baten
E
E
Stul
M
M
Marynen
P
P
Cassiman
J J
JJ
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood; D002675:Child, Preschool; D002872:Chromosome Deletion; D015342:DNA Probes; D006801:Humans; D008297:Male; D009030:Mosaicism; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D015183:Restriction Mapping
D015342:DNA Probes; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase