Variante p.Gly143Glu no Gene CES1 Associada a Resposta Adversa ao Metilfenidato numa Criança: Relato de Caso

Catarina M. Nascimento; Iolanda Faustino; Henrique Brito; Sílvia Afonso

doi:10.20344/amp.24657

p.Gly143Glu Variant in CES1 Gene Associated with an Adverse Response to Methylphenidate in a Child: Case Report

Authors

Catarina M. Nascimento Serviço de Psiquiatria da Infância e da Adolescência. Unidade Local de Saúde São José. Lisboa. https://orcid.org/0009-0004-9609-0828
Iolanda Faustino Serviço de Psiquiatria da Infância e da Adolescência. Unidade Local de Saúde São José. Lisboa.
Henrique Brito Serviço de Psiquiatria da Infância e da Adolescência. Unidade Local de Saúde São José. Lisboa.
Sílvia Afonso Unidade de Desenvolvimento do Centro de Estudo do Bebé e da Criança. Unidade Local de Saúde São José. Lisboa.

DOI:

https://doi.org/10.20344/amp.24657

Keywords:

Attention Deficit Disorder with Hyperactivity, Carboxylesterase/genetics, Carboxylic Ester Hydrolases/genetics, Child, Methylphenidate/pharmacokinetics

Abstract

n/a.

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References

Persico AM, Arango C, Buitelaar JK, Correll CU, Glennon JC, Hoekstra PJ, et al. Unmet needs in paediatric psychopharmacology: present scenario and future perspectives. Eur Neuropsychopharmacol. 2015;25:1513-31.

Zhu HJ, Patrick KS, Yuan HJ, Wang JS, Donovan JL, DeVane CL, et al. Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis. Am J Hum Genet. 2008;82:1241-8.

Stage C, Jürgens G, Guski LS, Thomsen R, Bjerre D, Ferrero-Miliani L, et al. The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects. Br J Clin Pharmacol. 2017;83:1506-14.

Brown JT, Bishop JR, Sangkuhl K, Nurmi EL, Mueller DJ, Dinh JC, et al. Clinical pharmacogenetics implementation consortium guideline for cytochrome P450 (CYP)2D6 genotype and atomoxetine therapy. Clin Pharmacol Ther. 2019;106:94-102.

Childress AC, Kmolova M, Sallee FR. An update on the pharmacokinetic considerations in the treatment of ADHD with long-acting methylphenidate and amphetamine formulations. Expert Opin Drug Metab Toxicol. 2019;15:937-74.

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Published

2026-09-01

How to Cite

M. Nascimento C, Faustino I, Brito H, Afonso S. p.Gly143Glu Variant in CES1 Gene Associated with an Adverse Response to Methylphenidate in a Child: Case Report. Acta Med Port [Internet]. 2026 Sep. 1 [cited 2026 Sep. 2];39(9):581-2. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/24657

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Issue

Vol. 39 No. 9 (2026): September

Section

Letters to the Editor

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