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Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
Drug toxicity: Idiosyncratic Reactions01:16

Drug toxicity: Idiosyncratic Reactions

Idiosyncratic drug reactions represent abnormal chemical responses that vary significantly among individuals, ranging from extreme sensitivity to low doses to insensitivity to high doses. These reactions often occur due to the drug's covalent binding with serum proteins, forming a foreign hapten that triggers an immunotoxicological response. The variability in drug reactions has a strong pharmacogenetic foundation, with genetic differences crucial in how individuals metabolize drugs. For...
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Basicity of Aromatic Amines

The basicity of aromatic amines is much weaker than that of aliphatic amines due to the involvement of the lone pair of electrons over the N atom in resonance with the aryl rings. Generally, the electron-donating ability of any substituents on the aryl ring of aromatic amines increases the basicity of the amine by increasing electron density, and hence the availability of lone pair on the nitrogen. On the other hand, electron-withdrawing functional groups on the aryl ring of amines decrease the...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Updated: May 14, 2026

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

Partial Pyridoxine Responsiveness in PNPO Deficiency.

Phillip L Pearl1,2, Keith Hyland3, J Chiles3

  • 1Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA. ppearl@childrensnational.org.

JIMD Reports
|February 23, 2013
PubMed
Summary

Partial PNPO deficiency can cause epilepsy responsive to vitamin B6. This case shows a transient response to pyridoxine and identifies a CSF metabolite peak, suggesting PNPO deficiency in epilepsy patients.

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Last Updated: May 14, 2026

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Autosomal-recessive pyridox(am)ine phosphate oxidase (PNPO) deficiency is a cause of pyridoxal-5-phosphate (PLP)-dependent epilepsy.
  • Partial PNPO deficiency may present with unique clinical and biochemical features.

Purpose of the Study:

  • To describe a case of partial PNPO deficiency with a transient response to pyridoxine (vitamin B6).
  • To identify potential biomarkers for PNPO deficiency in cerebrospinal fluid (CSF).

Main Methods:

  • Analysis of CSF neurotransmitter metabolites, PLP, and amino acids during pyridoxine treatment.
  • PNPO gene sequencing to identify causative mutations.
  • Clinical assessment of seizure control and developmental outcomes.

Main Results:

  • A neonate with refractory seizures showed a temporary response to pyridoxine, followed by breakthrough seizures.
  • Subsequent administration of PLP controlled seizures, with episodes correlating with dosing intervals.
  • PNPO gene sequencing revealed a homozygous mutation (c.352G>A p.G118R) in a conserved region.
  • A distinct CSF metabolite peak, potentially pyridoxine phosphate, was observed in the patient.

Conclusions:

  • Transient pyridoxine responsiveness can be a feature of partial PNPO deficiency.
  • A specific CSF metabolite peak may aid in diagnosing PNPO deficiency in patients on pyridoxine supplementation.
  • Partial vitamin B6 responsiveness warrants consideration for PNPO deficiency and a trial of PLP.