- Jan 2025
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drive.google.com drive.google.com
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Case: only patient, female,
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: HP:0011463 Childhood onset, hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), low plasma citrulline (HP:0003572), vomiting (HP:0002013),
Case HPO FreeText : episodes of nausea, stomachache and temporary elevated trans- aminase
Case NOT HPOs:
Case NOT HPO Free Text: Sanger sequencing revealed no pathogenic mutation. real-time PCR was conducted on blood DNA from the patient and a male control subject using the Applied Biosystems 7300 real time PCR system (Thermo Fisher Scientific). Several primer pairs were designed for OTC (upstream of exon 1 and intron 6) and RPP30 that was used as an autosomal single copy gene reference to generate amplicons suitable for real-time PCR
Test results plasma ammonia: 220 μg/dl (ref 12~ 60 μg/dl) plasma glutamine:1212 nmol/ml (ref 420–700) plasma citrulline: 18.4 nmol/ml (ref 17–43), urinary orotate: 234.3 μmol/g Cr (ref 4.7 ~ 15.9 μmol/g creatinine) Arg: 32.2 nmol/ml (ref 54–130).
Case Previous Testing:
Supplemental Data: Genetic analysis section,
Notes: No variant mutation detected but was found first documented case of OTCD caused by an exonic duplication (exons 1 to 6) of the OTC gene. Further analysis indicated that it resulted from complex rearrangements.
Treatment: protein-restricted diet and by oral sodium phenylbutyrate and arginine.
Variant: NM_000531.6:-
ClinVarID: -
CAID: -
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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