High-Dose Methylphenidate and Carboxylesterase 1 Genetic Variability in Patients With Attention-Deficit/Hyperactivity Disorder: A Case Series

J Clin Psychopharmacol. 2024 Jan-Feb;44(1):35-38. doi: 10.1097/JCP.0000000000001772. Epub 2023 Oct 17.

Abstract

Purpose/background: Methylphenidate (MPH) is widely used to reduce symptoms of attention-deficit/hyperactivity disorder. Methylphenidate is metabolized by the carboxylesterase 1 (CES1) enzyme. Some patients need a very high dose of MPH to reach desired clinical effects, without having adverse effects. This may be due to differences in MPH pharmacokinetics (PK), potentially caused by DNA variants in CES1 , the gene encoding the enzyme that metabolizes MPH. Here we describe 3 patients requiring high-dose MPH and investigated the CES1 gene.

Methods/procedures: The 3 patients were using short-acting MPH in a dose of 180 to 640 mg instead of the maximum advised dose of around 100 mg MPH in the Netherlands. Plasma concentrations of MPH were determined at scheduled time points (day-curve). Methylphenidate plasma concentrations were used for PK analysis using an earlier published 2-compartment PK population model of MPH. Individual data of the 3 patients were compared with simulated population data, when equivalent doses were used. In addition, CES1 was genotyped (number of gene copies and single nucleotide polymorphisms) using real-time polymerase chain reaction.

Findings/results: Pharmacokinetic analysis in all 3 patients showed lower plasma concentrations of MPH in comparison with the population data. The mean absorption time and volume of distribution of the central compartment were equal, but the elimination clearance was higher. However, CES1 genotyping revealed no variations that could explain a higher metabolism of MPH.

Implications/conclusions: In these 3 cases, we could not demonstrate a correlation between MPH clearance and known genetic variants of the CES1 gene.

MeSH terms

  • Attention Deficit Disorder with Hyperactivity* / drug therapy
  • Attention Deficit Disorder with Hyperactivity* / genetics
  • Carboxylic Ester Hydrolases / genetics
  • Carboxylic Ester Hydrolases / therapeutic use
  • Central Nervous System Stimulants* / adverse effects
  • Delayed-Action Preparations / therapeutic use
  • Humans
  • Methylphenidate* / adverse effects
  • Polymorphism, Single Nucleotide

Substances

  • Carboxylic Ester Hydrolases
  • Central Nervous System Stimulants
  • Delayed-Action Preparations
  • Methylphenidate
  • CES1 protein, human