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

doi:10.7326/aimcc.2025.1082

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 (Lead / Corresponding author)

Civil Engineering

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English
Article number	e251082
Number of pages	5
Journal	Annals of Internal Medicine: Clinical Cases
Volume	5
Issue number	5
Early online date	5 May 2026
DOIs	https://doi.org/10.7326/aimcc.2025.1082
Publication status	Published - May 2026

Keywords

Amino acids
Diet
Genetic testing
Gluten
Hyperphenylalaninemia
Metabolites
Neurologic
Nutritional deficiencies
Osteopenia
Phenylalanine
Phenylketonuria
Proteins
Signs and symptoms
Sleep

ASJC Scopus subject areas

Internal Medicine
Cardiology and Cardiovascular Medicine
Clinical Biochemistry

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https://www.acpjournals.org/doi/10.7326/aimcc.2025.1082

Cite this

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title = "Concurrent Phenylalanine Hydroxylase–Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management",

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.",

keywords = "Amino acids, Diet, Genetic testing, Gluten, Hyperphenylalaninemia, Metabolites, Neurologic, Nutritional deficiencies, Osteopenia, Phenylalanine, Phenylketonuria, Proteins, Signs and symptoms, Sleep",

author = "Jade Jensen and Erin Merritt and Olarewaju, \{Bukola A.\} and Tejon, \{Judy B.\} and Asif, \{Misha B.\} and Lanpher, \{Brendan C.\} and Osundiji, \{Mayowa A.\}",

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year = "2026",

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doi = "10.7326/aimcc.2025.1082",

language = "English",

volume = "5",

number = "5",

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T1 - Concurrent Phenylalanine Hydroxylase–Related Disorder and Celiac

T2 - A Rare Co-occurrence With Implications for Clinical Management

AU - Jensen, Jade

AU - Merritt, Erin

AU - Olarewaju, Bukola A.

AU - Tejon, Judy B.

AU - Asif, Misha B.

AU - Lanpher, Brendan C.

AU - Osundiji, Mayowa A.

PY - 2026/5

Y1 - 2026/5

N2 - 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.

AB - 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.

KW - Amino acids

KW - Diet

KW - Genetic testing

KW - Gluten

KW - Hyperphenylalaninemia

KW - Metabolites

KW - Neurologic

KW - Nutritional deficiencies

KW - Osteopenia

KW - Phenylalanine

KW - Phenylketonuria

KW - Proteins

KW - Signs and symptoms

KW - Sleep

U2 - 10.7326/aimcc.2025.1082

DO - 10.7326/aimcc.2025.1082

M3 - Article

C2 - 42205176

VL - 5

JO - Annals of Internal Medicine: Clinical Cases

JF - Annals of Internal Medicine: Clinical Cases

IS - 5

M1 - e251082

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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