Evidence map›Paper›PMID 39141102›Full record

ArticleEuropean child & adolescent psychiatry2025

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

Sihong Li, Zexuan Li, Qiuxia Wu, Xuerong Luo, Yidong Shen

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Article in European child & adolescent psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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5 authors.

Sihong LiDepartment of Psychiatry, and National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, 410011, Hunan, China.
Zexuan LiDepartment of Psychiatry, and National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, 410011, Hunan, China.
Qiuxia WuDepartment of Psychiatry, and National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, 410011, Hunan, China.
Xuerong LuoDepartment of Psychiatry, and National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, 410011, Hunan, China. 502438@csu.edu.cn.
Yidong ShenDepartment of Psychiatry, and National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, 410011, Hunan, China. shenyidong87@csu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Congenital Disorders of GlycosylationGlucosyltransferasesRisperidoneAdolescentCitalopramFemaleFollow-Up StudiesHumansCitalopramGlucosyltransferasesRisperidoneALG6 geneAntipsychotic treatmentCongenital disorder of glycosylationPsychiatry assessment

Identifiers

PMID39141102

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