ArticleMolecular genetics and metabolism reports2021
Continuation of pegvaliase treatment during pregnancy: A case report.
Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations.Orphanet journal of rare diseases · 2023Guideline
- Clinical practice considerations for restarting pegvaliase in adults with phenylketonuria.Molecular genetics and metabolism reports · 2026Article
- Evaluating adverse events of pegvaliase-pqpz in phenylketonuria treatment: A comprehensive safety assessment.SAGE open medicine · 2025Article
- Reinstitution of pegvaliase therapy during lactation.Molecular genetics and metabolism reports · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels. Poorly controlled Phe levels in women of childbearing age are particularly worrisome due to the toxic effect of elevated Phe on fetal development. Pegvaliase was recently approved as an enzyme substitution therapy to reduce Phe concentrations in adult patients with PAH deficiency who have suboptimal Phe control on existing management. During the pegvaliase clinical trials pregnant patients were excluded from participation, but the approved label does not contraindicate its use during pregnancy. This case report describes the outcome of the first PAH deficient patient who elected to continue treatment with pegvaliase during pregnancy and reviews the lessons learned and future considerations.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.