Fatal initial adult-onset presentation of urea cycle defect.
BACKGROUND
Ornithine transcarbamylase (OTC) deficiency presents most commonly with neonatal hyperammonemic coma. The gene is on the X chromosome, but the disease may manifest as a dominant trait. Mutations that lead to later-onset presentations may lead to life-threatening disease and may be unrecognized, particularly when the first clinical disease occurs in adulthood.


OBJECTIVE
To document the clinical and metabolic consequences of a mutation in the OTC gene.


METHODS
Case reports.


METHODS
A metabolic/biochemical genetic referral service.


METHODS
Clinical and biochemical observations in 3 generations of a family.


RESULTS
A mutation in codon 208 of exon 6 in the OTC gene was found in a family in which the proband died of hyperammonemia at 52 years of age.


CONCLUSIONS
Diagnosis of late-onset presentations of urea cycle defect in adults may be delayed. Heightened awareness could lead to effective treatment.
Lien
Jamie
J
Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093-0830, USA.
Nyhan
William L
WL
Barshop
Bruce A
BA
D000328:Adult; D001929:Brain Edema / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D004247:DNA / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014427:Twins; D014508:Urea / Q000378:metabolism*
D014508:Urea; D004247:DNA; D009954:Ornithine Carbamoyltransferase