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Case Reports
. 2025 Feb;34(2):795-800.
doi: 10.1007/s00787-024-02564-x. Epub 2024 Aug 14.

Psychiatric assessment and therapy in an adolescent with ALG6-CDG: a six-month follow-up case report

Sihong Li  1 , Zexuan Li  1 , Qiuxia Wu  1 , Xuerong Luo  2 , Yidong Shen  3
Affiliations
Case Reports

Psychiatric assessment and therapy in an adolescent with ALG6-CDG: a six-month follow-up case report

Sihong Li et al. Eur Child Adolesc Psychiatry. 2025 Feb.

Abstract

ALG6-congenital disorder of glycosylation (ALG6-CDG) is a complex of rare inherited disorders caused by mutations in the ALG6 gene, which encodes the α-1,3-glucosyltransferase enzyme required for N-glycosylation. ALG6-CDG affects multiple systems and exhibits clinical heterogeneity. Besides developmental delays and neurological signs and symptoms, behavioral and psychological symptoms are also an important group of clinical features of ALG6-CDG. Here, we present the case of a 17-year-old Chinese girl with ALG6-CDG who first visited the psychiatric department with apathy, language reduction, and substupor symptoms. The psychiatric assessments and treatment processes performed are described and discussed in this report. During diagnostic process, we found a novel mutation, c.849delT, in ALG6 by whole-exome sequencing. The patient's symptoms improved with escitalopram and risperidone treatment. However, above a certain dosage, she was sensitive to extrapyramidal side effects. This study accumulates clinical experience for diagnosing and treating ALG6-CDG and improves our understanding of this rare genetic disorder.

Keywords: ALG6 gene; Antipsychotic treatment; Congenital disorder of glycosylation; Psychiatry assessment.

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Conflict of interest statement

Declarations. Ethics statement: This study was reviewed and approved by the Human Ethics Committee of the Second Xiangya Hospital, Central South University. Written informed consent was obtained from the legal guardians of the patient. Consent for publication: Both patient and her parents agreed to publish. Competing interests: The authors declare no competing interests.

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