N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Kasapkara, Çiğdem Seher; Ezgu, Fatih Süheyl; Okur, İlyas; Tümer, Leyla; Biberoğlu, Gürsel; Hasanoğlu, Alev

doi:10.1007/s00431-010-1362-9

Cited by 40 publications

(28 citation statements)

References 10 publications

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“…This is the situation in some organic acidurias [26][27][28][29][30] or in valproate-induced hyperammonemia [31] and might also be the case in fatty acid oxidation disorders.…”

Section: Drug Profilementioning

confidence: 96%

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Carglumic acid for the treatment ofN-acetylglutamate synthase deficiency and acute hyperammonemia

Häberle¹

2012

Expert Review of Endocrinology & Metabolism

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“…This is the situation in some organic acidurias [26][27][28][29][30] or in valproate-induced hyperammonemia [31] and might also be the case in fatty acid oxidation disorders.…”

Section: Drug Profilementioning

confidence: 96%

“…Hyperammonemia in organic acidurias is thought to be caused in part by inhibition of NAGS due to accumulation of toxic intermediates and by deficiency of glutamate or acetyl-CoA as the substrates of NAGS (Table 1) [26,29,30,[49][50][51][52][53].…”

Section: Biochemistry and Metabolismmentioning

confidence: 99%

Carglumic acid for the treatment ofN-acetylglutamate synthase deficiency and acute hyperammonemia

Häberle¹

2012

Expert Review of Endocrinology & Metabolism

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“…Kasapkara et al [15] reported on the use of NCG in the treatment of hyperammonaemia in a 3-day-old neonate with decompensated isovaleric aciduria with a single dose of NCG 150 mg/kg. Plasma ammonia levels decreased from 568 µg/dl (333.4 µmol/l) to 72 µg/dl (42.3 µmol/l) in 6 h. Studies have demonstrated that NCG enhances ureagenesis and reduces ammonia in organic acidurias presumably by increasing flux through the carbamoyl phosphate synthetase 1 reaction in the urea cycle [16].…”

Section: Discussionmentioning

confidence: 99%

“…NCG has recently been used as part of a multiple treatment strategy for hyperammonaemia in MMA [5,6,7] and in other classical organic acidurias such as propionic aciduria [6,7,11,12,13,14] and isovaleric aciduria [15]. Kasapkara et al [15] reported on the use of NCG in the treatment of hyperammonaemia in a 3-day-old neonate with decompensated isovaleric aciduria with a single dose of NCG 150 mg/kg.…”

Section: Discussionmentioning

confidence: 99%

N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria

Yap¹,

Leong²,

Aziz³

et al. 2016

Neonatology

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N-carbamylglutamate (NCG) has been used in combination with ammonia scavengers (sodium benzoate, sodium phenylbutyrate) and dialysis to treat hyperammonaemia in methylmalonic aciduria (MMA). The sole use of NCG for acute neonatal hyperammonaemia secondary to MMA is demonstrated in a neonate presenting at day 9 with encephalopathy, severe metabolic acidosis, hyperammonaemia (1,089 μmol/l), ketonuria and urinary methylmalonic acids. Emergency treatment included discontinuing protein feeds, providing high calories, carnitine and hydroxocobalamin. NCG 200 mg given at 0 and 90 min decreased plasma ammonia dramatically from 1,089 to 567 µmol/l at 90 min and further to 236 µmol/l at 6 h. Normalisation of ammonia was achieved at 12 h with two further doses of NCG 100 mg. This allowed for early re-institution of feeds at 14 h, followed by metabolic stabilization and recovery. Due to the effectiveness of NCG in this case, the use of the more invasive conventional ammonia-lowering therapeutic options could be avoided.

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“…Sumado al tratamiento clásico, disminuye de forma rápida los niveles de amoniaco en plasma y en muchas ocasiones evita la necesidad de hemodiálisis o diálisis peritoneal (20). Hasta hace poco, la NGG se utilizaba solo después del fracaso del tratamiento clásico; no obstante, diferentes autores han recomendado administrar este fármaco para los recién nacidos tan pronto como se detecten severos episodios de hiperamoniemia de causa aún no conocida (20)(21)(22) y actualmente es un fármaco de primera línea en los protocolos (23).…”

Section: Amoniounclassified

Estudio Multicéntrico Español: Niños Con Hiperamoniemia No Asociada a Errores Innatos Del Metabolismo

et al. 2017

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ResumenIntroducción: la encefalopatía hiperamoniémica inducida por causas diferentes a los errores innatos del metabolismo es una complicación relativamente infrecuente, pero muy grave. Objetivos: conocer las características de un episodio de hiperamoniemia secundaria, tratar de discernir las causas desencadenantes, cómo se llega al diagnóstico del episodio y cómo se desarrolla la actuación terapéutica. Métodos: es un estudio multicéntrico retrospectivo de casos pediátricos con hiperamoniemia no relacionada con errores innatos del metabolismo, llevado a cabo en hospitales españoles. Resultados: fueron seleccionados 19 pacientes y en un 47% el episodio de hiperamoniemia apareció en menores de un año, que fueron diagnosticados mayoritariamente con dos o más síntomas. La clínica más frecuente fue la de alteración del nivel de conciencia tipo intoxicación, seguida de las crisis convulsivas, sumando en ambas hasta 14 pacientes con alguna de ellas o las dos. Doce de los 19 pacientes utilizaban más de dos fármacos antiepilépticos de forma habitual. Todos los niños recibieron tratamiento con restricción proteica (n: 10), quelantes (n: 10) y/o ácido carglúmico (n: 12) para el tratamiento de la hiperamoniemia. Conclusiones: este estudio sugiere que la hiperamoniemia secundaria puede estar infradiagnosticada y solo se detecta cuando aparece una sintomatología grave. Parecen ser pacientes de riesgo aquellos que reciben fármacos antiepilépticos o aquellos críticos con una alimentación restringida o un metabolismo elevado. La respuesta con tratamiento específi co es adecuada pero debe ser precoz para evitar las secuelas neurológicas de esta entidad. AbstractIntroduction: The hyperammonemic encephalopathy induced by causes different from inborn errors of metabolism is a relatively uncommon but severe complication. Objectives: To study the characteristics of a secondary hyperammonemia episode to discern the triggering causes to get to the diagnosis, and the development in the therapeutic intervention. Methods: A multicenter retrospective study of children with hyperammonemia unrelated to inborn errors of metabolism, conducted in Spanish hospitals. Results: Nineteen patients were selected; hyperammonemia developed in infants under one year old in 47% of them, being diagnosed mostly with two or more symptoms. The most common clinical fi nding was an altered consciousness level similar to that of intoxication symptoms, followed by seizures. These clinical symptoms were present in 14 patients, with one of them or both. Twelve of the 19 patients were in treatment with more than two antiepileptic drugs routinely. All children were treated with protein restriction (n: 10), scavengers (n: 10) and/or carglumic acid (n: 12) for the treatment of hyperammonemia. Conclusions: This study suggests that secondary hyperammonemia could be underdiagnosed because it is only detected when severe symptoms appear. Risk seems to be higher in those patients receiving antiepileptic drugs or those critically ill with a restricted diet or incremented met...

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N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Cited by 40 publications

References 10 publications

Carglumic acid for the treatment ofN-acetylglutamate synthase deficiency and acute hyperammonemia

Carglumic acid for the treatment ofN-acetylglutamate synthase deficiency and acute hyperammonemia

N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria

Estudio Multicéntrico Español: Niños Con Hiperamoniemia No Asociada a Errores Innatos Del Metabolismo

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