Evidence map›Paper›PMID 40976841›Full record

ReviewPaediatric drugs2025

Current Treatment Modalities for Urea Cycle Disorders.

Nicholas Ah Mew, Uta Lichter-Konecki

Abstract readReview
PubMed Publisher
In one paragraph

Review in Paediatric drugs, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Nicholas Ah MewCenter for Precision Medicine and Genomics Research, Children's National Hospital, Washington, DC, USA.
Uta Lichter-KoneckiDivision of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Ave, Pittsburgh, PA, 15224, USA. uta.lichterkonecki@chp.edu.ORCID http://orcid.org/0000-0002-6757-2914

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The urea cycle, a metabolic pathway comprising six enzymes and two transporters, is necessary for mammalian nitrogen detoxification. A deficiency of any of these components disrupts this process, leading to the accumulation of nitrogen in the form of ammonia, which is especially toxic to the brain. For decades, treatment of urea cycle disorders has consisted of nitrogen scavengers, dietary protein restriction, arginine or citrulline supplementation, calorie support, and liver transplant. In 2011, carglumic acid became available as a substitute for N-acetylglutamate for N-acetylglutamate synthase deficiency. The past 10 years, however, have seen the development of enzyme therapy for arginase deficiency and gene therapy for ornithine transcarbamylase deficiency. This article reviews the current status and availability of treatment options for urea cycle disorders.

Indexed as

Urea Cycle Disorders, InbornAnimalsGenetic TherapyHumans

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.