Related Experiment Video

Updated: Jul 5, 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

Inborn errors of metabolism around time of birth

J V Leonard1, A A Morris

  • 1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK.

Lancet (London, England)
|August 19, 2000
PubMed

Insights

Inborn errors of metabolism (IEM) often appear at birth. Prompt diagnosis and risk identification are crucial for timely treatment, even before a definitive diagnosis is confirmed.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Inborn errors of metabolism (IEM) are a group of genetic disorders.
  • These conditions often manifest in newborns, presenting a diagnostic challenge.
  • Early detection is critical for preventing severe health consequences.

Purpose of the Study:

  • To highlight the importance of rapid diagnosis in IEM.
  • To propose a strategy for identifying high-risk infants.
  • To emphasize the need for prompt treatment initiation.

Main Methods:

  • Review of clinical presentations of IEM.
  • Analysis of diagnostic challenges and timelines.
  • Development of a risk-stratification approach.

Main Results:

  • Most infants with IEM appear healthy at birth but deteriorate rapidly.
  • Some IEMs present at birth or are detectable via antenatal ultrasonography.
  • A strategy for early identification of at-risk neonates is proposed.

Conclusions:

  • Timely diagnosis of IEM is essential for effective management.
  • Treatment initiation should not be postponed pending a definitive diagnosis.
  • A proactive approach to identifying and managing high-risk infants is recommended.

More Related Videos

Genome-wide Surveillance of Transcription Errors in Eukaryotic Organisms09:30

Genome-wide Surveillance of Transcription Errors in Eukaryotic Organisms

Published on: September 13, 2018

Stable Isotope In-Vivo Labeling for Mass-Spectrometry Identification of Paternal Metabolites Transferred from Sperm to Oocyte During Fertilization05:55

Stable Isotope In-Vivo Labeling for Mass-Spectrometry Identification of Paternal Metabolites Transferred from Sperm to Oocyte During Fertilization

Published on: June 17, 2025

Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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...
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...
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...