1 Matching Annotations
  1. Jan 2025
    1. 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)