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Psychiatric manifestations of inborn errors of metabolism : A systematic review

van de Burgt, Nikita ; van Doesum, Willem ; Grevink, Mirjam ; van Niele, Stephanie ; de Koning, Tom LU ; Leibold, Nicole ; Martinez-Martinez, Pilar ; van Amelsvoort, Therese and Cath, Danielle (2023) In Neuroscience and Biobehavioral Reviews 144.
Abstract

Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a result of an inherited disease, leading to the accumulation or decreased excretion of proteins, carbohydrates and lipids. Although IEMs are often diagnosed during childhood, adolescent and adult onset variants may be accompanied by less somatic and more psychiatric manifestations, which often hampers recognition by psychiatrists of the distinction between a primary and secondary psychiatric disorder. To help clinicians in the diagnostic process, we aimed to provide an overview of psychiatric manifestations in IEMs. Our literature search yielded 4380 records in total, of which 88 studies were included in the qualitative synthesis. Reported... (More)

Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a result of an inherited disease, leading to the accumulation or decreased excretion of proteins, carbohydrates and lipids. Although IEMs are often diagnosed during childhood, adolescent and adult onset variants may be accompanied by less somatic and more psychiatric manifestations, which often hampers recognition by psychiatrists of the distinction between a primary and secondary psychiatric disorder. To help clinicians in the diagnostic process, we aimed to provide an overview of psychiatric manifestations in IEMs. Our literature search yielded 4380 records in total, of which 88 studies were included in the qualitative synthesis. Reported psychiatric disorders in adolescent and adult IEMs included depression, anxiety disorder, psychosis, attention deficit hyperactivity disorder, autism spectrum disorder, bipolar disorder and obsessive-compulsive disorder as assessed by semi-structured diagnostic interviews and validated questionnaires. A diagnostic screener and multidisciplinary IEM clinics are proposed to help clinicians during the diagnostic process, to prevent diagnostic delay and to raise awareness of the psychiatric manifestations among IEMs.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Inborn errors of metabolism, Inherited metabolic disorders, Inherited mitochondrial disorders, Psychiatric disorders, Psychiatry
in
Neuroscience and Biobehavioral Reviews
volume
144
article number
104970
publisher
Elsevier
external identifiers
  • scopus:85142706774
  • pmid:36436739
ISSN
0149-7634
DOI
10.1016/j.neubiorev.2022.104970
language
English
LU publication?
yes
additional info
Funding Information: We would like to thank Ineke Olsman, librarian of GGZ Drenthe, for her assistance in preparing and executing the search strategy for this systematic review. Publisher Copyright: © 2022 The Authors
id
28ec17cd-d4f7-487a-9b6a-2ca1ffb1327d
date added to LUP
2022-12-12 08:22:47
date last changed
2024-06-13 21:22:16
@article{28ec17cd-d4f7-487a-9b6a-2ca1ffb1327d,
  abstract     = {{<p>Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a result of an inherited disease, leading to the accumulation or decreased excretion of proteins, carbohydrates and lipids. Although IEMs are often diagnosed during childhood, adolescent and adult onset variants may be accompanied by less somatic and more psychiatric manifestations, which often hampers recognition by psychiatrists of the distinction between a primary and secondary psychiatric disorder. To help clinicians in the diagnostic process, we aimed to provide an overview of psychiatric manifestations in IEMs. Our literature search yielded 4380 records in total, of which 88 studies were included in the qualitative synthesis. Reported psychiatric disorders in adolescent and adult IEMs included depression, anxiety disorder, psychosis, attention deficit hyperactivity disorder, autism spectrum disorder, bipolar disorder and obsessive-compulsive disorder as assessed by semi-structured diagnostic interviews and validated questionnaires. A diagnostic screener and multidisciplinary IEM clinics are proposed to help clinicians during the diagnostic process, to prevent diagnostic delay and to raise awareness of the psychiatric manifestations among IEMs.</p>}},
  author       = {{van de Burgt, Nikita and van Doesum, Willem and Grevink, Mirjam and van Niele, Stephanie and de Koning, Tom and Leibold, Nicole and Martinez-Martinez, Pilar and van Amelsvoort, Therese and Cath, Danielle}},
  issn         = {{0149-7634}},
  keywords     = {{Inborn errors of metabolism; Inherited metabolic disorders; Inherited mitochondrial disorders; Psychiatric disorders; Psychiatry}},
  language     = {{eng}},
  publisher    = {{Elsevier}},
  series       = {{Neuroscience and Biobehavioral Reviews}},
  title        = {{Psychiatric manifestations of inborn errors of metabolism : A systematic review}},
  url          = {{http://dx.doi.org/10.1016/j.neubiorev.2022.104970}},
  doi          = {{10.1016/j.neubiorev.2022.104970}},
  volume       = {{144}},
  year         = {{2023}},
}