Psychiatric manifestations of inborn errors of metabolism: A systematic review

Nikita van de Burgt*, Willem van Doesum, Mirjam Grevink, Stephanie van Niele, Tom de Koning, Nicole Leibold, Pilar Martinez-Martinez, Therese van Amelsvoort, Danielle Cath

*Corresponding author for this work

Research output: Contribution to journal(Systematic) Review article peer-review


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.

Original languageEnglish
Article number104970
JournalNeuroscience and Biobehavioral Reviews
Publication statusE-pub ahead of print - 25 Nov 2022

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