Related Experiment Video

Updated: Jun 8, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Genetic counseling in a busy pediatric metabolic practice

Jessica N Hartley1, Cheryl R Greenberg, Aizeddin A Mhanni

  • 1Department of Pediatrics and Child Health, University of Manitoba Children's Hospital, Winnipeg, MB, Canada.

Journal of Genetic Counseling
|September 15, 2010
PubMed

Insights

Patients with inborn errors of metabolism need specialized care. Genetic counselors are vital for patient education, support, and understanding genetic risks, especially in isolated populations.

Area of Science:

  • Pediatric Medicine
  • Medical Genetics
  • Metabolic Disorders

Background:

  • Inborn errors of metabolism (IEM) require comprehensive, lifelong clinical management.
  • Families of patients with IEM need support for acute illnesses, long-term complications, and genetic counseling.
  • Multidisciplinary care is essential for optimizing patient outcomes.

Purpose of the Study:

  • To highlight the integral role of genetic counselors in a multidisciplinary pediatric metabolic clinic.
  • To share experiences in providing longitudinal care for children with complex metabolic disorders.
  • To emphasize the importance of genetic counseling in managing genetic risks and reproductive choices for IEM patients.

Main Methods:

  • A multidisciplinary pediatric metabolic clinic approach.
  • Integration of metabolic geneticists, dieticians, social workers, pharmacists, nurses, and genetic counselors.
  • Longitudinal care provision for patients with complex medical needs.

Main Results:

  • The genetic counselor's role is crucial for patient and family education and support.
  • Genetic counseling facilitates coping with disease burden and adaptation to genetic conditions.
  • Understanding genetic risks and reproductive options is enhanced through specialized counseling.

Conclusions:

  • A multidisciplinary clinic model provides optimal care for patients with inborn errors of metabolism.
  • Genetic counselors are essential members of the metabolic clinic team, offering vital support and education.
  • Specialized care, including genetic counseling, is particularly important in isolated populations with high IEM prevalence due to founder effects.

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Concept Videos

Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...