- Jul 2024
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Case: no patient ID#, 36yo donor , female
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: adult onset (HP:0003581), oriticaciduria (HP:0003218), irritability (HP:0000737), protein avoidance
Case HPO FreeText: hyperammonemic encephalopathy
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: N/A
Supplemental Data: TABLE 1, She is vegeterian. The symptoms of OTCD started showing after the patient donated 60% of liver to her sibling. the information reported in this is the biochemical results during hyperammonemic episode following the transplantation. the patient became irritable and confused, and her level of consciousness deteriorated markedly. After hemodialysis the patient recovered.
Variant: NM_000531.6: c.429T>A(p.Tyr143*)
ClinVarID: 1072591
CAID: CA412723166
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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