Case: Patient #44, female, Korean

DiseaseAssertion: UCD/OTCD

FamilyInfo: variant in mother (father not tested)

CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003217

CaseHPOFreeText: Childhood onset, hyperammonemia, oroticaciduria, hyperglutaminemia

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.

Supplemental Data: Table 1, mother is a carrier, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.

Variant: NM_000531.6:c.799_800insA (p.Ser267Lysfs*26)

ClinVarID: N/A

CAID:CA2695233327

gnomAD:

GeneName: OTC (ornithine transcarbamylase)