Open AccessSevere Hyperammonaemia with Metabolic Acidosis in a Neonate: a Case Report of Ornithine Transcarbamylase Deficiency (OTCD)
Author(s) -
Aniza Mohammed Jelani,
Hani Ajrina Zulkeflee,
Noor Azlin Azraini Che Soh,
Julia Omar,
Wan Aireene Wan Ahmed,
Muhammad Yusoff Mohd Ramdzan
Publication year - 2022
Publication title -
malaysian journal of science, health and technology
Language(s) - English
Resource type - Journals
ISSN - 2601-0003
DOI - 10.33102/2022209
Subject(s) - ornithine transcarbamylase deficiency , lethargy , ornithine transcarbamylase , hyperammonemia , urea cycle , medicine , orotic acid , endocrinology , metabolic acidosis , respiratory distress , ornithine carbamoyltransferase , asymptomatic , citrullinemia , metabolic disorder , ornithine , biology , arginine , biochemistry , surgery , amino acid
Ornithine 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.