Under recognition of late onset ornithine transcarbamylase deficiency.
Late onset ornithine transcarbamylase deficiency (McKusick 311250) is reported in four Finnish patients, two boys and two heterozygous girls. The subtle onset and course of ornithine transcarbamylase deficiency emphasises the need for plasma ammonia and amino acid measurements in clinical situations suggesting a disorder of this nature.
Schultz
R E
RE
Department of Pediatrics, University Hospital Tampere, PO Box 2000, 33521 Tampere, Finland. llrusc@uta.fi
Salo
M K
MK
D017668:Age of Onset; D000410:Alanine Transaminase / Q000097:blood*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
D000410:Alanine Transaminase