Annotation of EMA Label for sodium phenylbutyrate and ASS1, CPS1, OTC
PharmGKB ID
Summary
The EMA European Public Assessment Report (EPAR) for sodium phenylbutyrate (AMMONAPS) states that it is indicated as an adjunctive therapy in the chronic management of urea cycle disorders, involving deficiencies of carbamylphosphate synthetase (CPS1), ornithine transcarbamylase (OTC) or argininosuccinate synthetase (ASS1).
Annotation
Excerpt from the sodium phenylbutyrate (AMMONAPS) EPAR:
AMMONAPS is indicated as adjunctive therapy in the chronic management of urea cycle disorders, involving deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase or argininosuccinate synthetase.
It is indicated in all patients with neonatal-onset presentation (complete enzyme deficiencies, presenting within the first 28 days of life). It is also indicated in patients with late-onset disease (partial enzyme deficiencies, presenting after the first month of life) who have a history of hyperammonaemic encephalopathy.
For the complete drug label text with sections containing pharmacogenetic information highlighted, see the sodium phenylbutyrate EPAR PDF.
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Evidence for Clinical Annotations
This annotation has been used as evidence for the following clinical annotations.