Related Experiment Video

Updated: Aug 14, 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

Management of inborn errors of metabolism during pregnancy

B J Clark1, F Cockburn

  • 1Department of Child Health, University of Glasgow, Scotland.

Acta Paediatrica Scandinavica. Supplement
|January 1, 1991
PubMed

Insights

More women with inherited metabolic disorders are having children. This review covers risks and management strategies for maternal metabolic disorders during pregnancy and childbirth, focusing on key healthcare professional roles.

Area of Science:

  • Maternal-fetal medicine
  • Inherited metabolic disorders
  • Genetics and reproductive health

Background:

  • Increasing survival rates of women with inherited metabolic disorders.
  • Pregnancy in women with metabolic disorders poses risks to mother and child.
  • Need for specialized care during pregnancy, delivery, and neonatal periods.

Purpose of the Study:

  • To review the range of inherited metabolic disorders in pregnant women.
  • To outline risks associated with these disorders for maternal and infant health.
  • To discuss appropriate management strategies and multidisciplinary team roles.

Main Methods:

  • Literature review on maternal metabolic disorders.
  • Analysis of risks and outcomes in pregnancy.
  • Examination of management protocols and healthcare provider roles.

Main Results:

  • Highlights the growing population of women with metabolic disorders who are conceiving.
  • Identifies critical risks to maternal and fetal well-being.
  • Emphasizes the necessity of awareness and tailored management.

Conclusions:

  • Effective management requires understanding diverse metabolic disorders.
  • Multidisciplinary collaboration is crucial for optimizing outcomes.
  • Specific focus on the roles of pediatricians, obstetricians, and dietitians in managing Maternal Hyperphenylalaninaemia and phenylketonuria.

More Related Videos

The 4-vessel Sampling Approach to Integrative Studies of Human Placental Physiology In Vivo12:17

The 4-vessel Sampling Approach to Integrative Studies of Human Placental Physiology In Vivo

Published on: August 2, 2017

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Related Concept Videos

Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
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...
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...
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...
Biosynthesis of Nucleic Acids01:28

Biosynthesis of Nucleic Acids

Nucleic acid biosynthesis is a fundamental biochemical process that produces the purine and pyrimidine nucleotides essential for DNA and RNA synthesis. This pathway maintains a balanced nucleotide pool, preventing imbalances that could jeopardize genetic integrity and cellular function. Given the crucial role of nucleotides, their synthesis is tightly regulated to ensure proper cellular homeostasis.Purine BiosynthesisThe biosynthesis of purine nucleotides begins with ribose-5-phosphate, a...