Case: patient #8, female, Malaysian

Disease Assertion: UCD/OTCD

Family Info: Family history of the disease

Case Presenting HPOs: Failure to thrive (HP:0001508), Seizure (HP:0001250), hyperammonemia (HP:0001987), Infantile onset (HP:0003593)

Case HPO FreeText: hypotonia, acute encephalopathy, and respiratory distress following febrile illness.

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: gDNA was isolated from peripheral blood leukocytes using a QIAamp DNA blood kit. PCR was used to amplify all 10 exons of the OTC gene using 11 pairs of synthetic oligonucleotide primers, which were tagged with a universal M13 primer. Bidirectional sequencing was conducted with Big Dye Terminator version 3.1 cycle-sequencing chemistries on a 4-channel capillary ABI 3130-Avant Genetic Analyzer. DNA sequences were aligned and compared with cDNA sequences using SeqScape Sofware version 2.5

Supplemental Data: TABLE 1, patient died. max plasma ammonia recorded was 560 umol/L. Treatment included: Stopping protein intake, Phenytoin, Mechanic ventilation, and parenteral fluid and nutrition. Multiple neonatal death amongst maternal male siblings

Variant: NM_000531.6: c.813_814delAGinsC(p.Glu271Aspfs*28)

ClinVarID:N/A

CAID: CA2695233328

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)