Evidence map›Paper›PMID 42205176›Full record

ArticleAnnals of internal medicine. Clinical cases2026

Concurrent Phenylalanine Hydroxylase-Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management.

Jade Jensen, Erin Merritt, Bukola A Olarewaju, Judy B Tejon, Misha B Asif, Brendan C Lanpher, Mayowa A Osundiji

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In one paragraph

Article in Annals of internal medicine. Clinical cases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Jade JensenDepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Erin MerrittSchool of Life Sciences, Arizona State University, Tempe, Arizona.
Bukola A OlarewajuSchool of Science and Engineering, University of Dundee, Nethergate, Dundee United Kingdom.
Judy B TejonDepartment of Clinical Genomics, Phoenix, Arizona.
Misha B AsifDepartment of Clinical Genomics, Phoenix, Arizona.
Brendan C LanpherDepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Mayowa A OsundijiDepartment of Clinical Genomics, Phoenix, Arizona.

Funding

Expert curation of sequence variants in the proximal urea cycle genesU24HD108087 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI AH MEW, NICHOLAS, CALDOVIC, LJUBICA MORIZONO · 2023 to 2025
$1.2M
NICHD NIH HHS U24 HD108087
6 · The paper itself

Abstract

Comorbid nutritional disorders can present with clinical management challenges. Phenylalanine hydroxylase (PAH) deficiency and celiac disease are both associated with dietary protein intolerance, yet they are different disorders. Phenylalanine hydroxylase deficiency is a rare genetic disorder that results in elevated levels of phenylalanine (Phe) in the blood. It causes multisystemic abnormalities, including neurologic findings, seizures, episodic tremor, ataxia, and cognitive and sensory disturbances. In contrast, celiac disease is a common nutritional disorder that arises from immune-mediated enteropathy against dietary gluten. Herein, we describe the clinical findings in an adult with PAH deficiency and celiac disease to showcase some opportunities for improved personalized nutritional management.

Indexed as

Amino acidsDietGenetic testingGlutenHyperphenylalaninemiaMetabolitesNeurologicNutritional deficienciesOsteopeniaPhenylalaninePhenylketonuriaProteinsSigns and symptomsSleep

Identifiers

PMID42205176
PMCPMC13201087

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.