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2025, Number 5

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Rev Mex Pediatr 2025; 92 (5)

Hyperammonemia due to ornithine transcarbamylase deficiency

Rivera-Comparán EA, Miranda-Barbachano K, Cárdenas-Conejo A, Peregrino-Bejarano L, Alegría-Torres GA, Zurita-Cruz JN

Language: Spanish
References: 18
Page: 197-201
PDF size: 388.92 Kb.


ABSTRACT

Introduction: ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder; its inheritance pattern is X-linked. This condition manifests with episodes of hyperammonemia that can occur in the neonatal period or later in life. Case report: a one-year-10-month-old female infant presented with recurrent vomiting, protein aversion, and an acute episode of hepatic encephalopathy associated with a urinary tract infection. Upon admission, hyperammonemia (325 mg/dL), elevated liver enzymes, and increased orotic acid excretion in urine were documented. Molecular analysis identified the heterozygous variant NM_000531.6(OTC):c.541-12C>A, not previously described in the literature. Treatment with sodium benzoate, levocarnitine, arginine, and protein restriction was initiated, with a favorable outcome. Conclusion: OTC deficiency should be considered in the differential diagnosis of patients with hepatic encephalopathy, vomiting, and hyperammonemia.


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