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Severe Hyperammonaemia with Metabolic Acidosis in a Neonate a Case Report of Ornithine Transcarbamylase Deficiency (OTCD)

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dc.contributor.authorAniza Mohammed Jelanien_US
dc.contributor.authorHani Ajrina Zulkefleeen_US
dc.contributor.authorNoor Azlin Azraini Che Sohen_US
dc.contributor.authorJulia Omaren_US
dc.contributor.authorWan Aireene Wan Ahmeden_US
dc.contributor.authorMuhammad Yusoff Mohd Ramdzanen_US
dc.date.accessioned2024-05-30T02:07:14Z
dc.date.available2024-05-30T02:07:14Z
dc.date.issued2022
dc.date.submitted2022-12-30
dc.descriptionVol. 8 No. 1 (2022)en_US
dc.description.abstractOrnithine transcarbamylase (OTC) deficiency (OTCD), the most common urea cycle disorder, is an X-linked genetic disorder due to complete or partial lack of the OTC enzyme. Its clinical presentation depends on the degree of enzyme deficiency and ranges from an acute neonatal metabolic crisis with a high mortality rate through to an asymptomatic adult. We present a case of a newborn baby boy who presented with poor feeding, vomiting, lethargy, and respiratory distress. Laboratory investigations revealed severe hyperammonaemia, hyperglutaminaemia, hyperalaninaemia, absence of citrulline, and marked orotic aciduria. Family screening confirmed the presence of an OTC disease-causing mutation in his mother. It was a heterozygous mutation, c.316G>A. p. Gly106Arg in exon 4.en_US
dc.identifier.citationAniza Mohammed Jelani, Hani Ajrina Zulkeflee, Noor Azlin Azraini Che Soh, Julia Omar, Wan Aireene Wan Ahmed, & Muhammad Yusoff Mohd Ramdzan. (2022). Severe Hyperammonaemia with Metabolic Acidosis in a Neonate: a Case Report of Ornithine Transcarbamylase Deficiency (OTCD). Malaysian Journal of Science Health & Technology, 8(1), 38–43. https://doi.org/10.33102/2022209en_US
dc.identifier.doi10.33102/2022209
dc.identifier.epage43
dc.identifier.issn2601-0003
dc.identifier.issue1(Feb)
dc.identifier.other2054-2
dc.identifier.spage38
dc.identifier.urihttps://mjosht.usim.edu.my/index.php/mjosht/article/view/209
dc.identifier.urihttps://oarep.usim.edu.my/handle/123456789/15413
dc.identifier.volume8
dc.language.isoenen_US
dc.publisherUSIM Pressen_US
dc.relation.ispartofMalaysian Journal of Science, Health & Technology (MJoSHT)en_US
dc.subjecturea cycle disorder, OTC, hyperammonaemia, neonateen_US
dc.titleSevere Hyperammonaemia with Metabolic Acidosis in a Neonate a Case Report of Ornithine Transcarbamylase Deficiency (OTCD)en_US
dc.typeArticleen_US
dspace.entity.typePublication

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