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Related Concept Videos

Urea Cycle01:23

Urea Cycle

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The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
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Inborn Errors of Metabolism01:20

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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...
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Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

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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...
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Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

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In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
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Overview of Protein Metabolism01:21

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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.
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Urine Studies I: Urinalysis01:29

Urine Studies I: Urinalysis

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Urinalysis is a widely used diagnostic test that analyzes urine's physical, chemical, and microscopic characteristics. Healthcare providers use it to detect and monitor various health conditions, including renal disease, urinary tract infections (UTIs), diabetes, and metabolic or systemic disorders.Components of UrinalysisUrinalysis consists of three primary components: physical, chemical, and microscopic examination. Each provides unique insights into the urine sample and, by extension, the...
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.

Tania Vasquez-Loarte1, John D Thompson2, J Lawrence Merritt3

  • 1Public Health Genetics, University of Washington, Seattle, WA 98195, USA.

International Journal of Neonatal Screening
|October 30, 2020
PubMed
Summary
This summary is machine-generated.

Newborn screening for proximal urea cycle disorders (PUCDs) could improve outcomes. Early detection and treatment of PUCDs, like ornithine transcarbamylase deficiency, may prevent intellectual disability and death.

Keywords:
N-acetyl glutamate synthetase deficiencyNBScarbamoyl phosphate synthetase 1 deficiencyneonatal screeningnewborn screeningornithine transcarbamylase deficiencyproximal urea cycle disorderspublic health

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Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Proximal urea cycle disorders (PUCDs) can lead to severe intellectual disability and death.
  • Early detection through newborn screening (NBS) offers potential benefits for managing PUCDs.
  • Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficiency (CPS1D) are examples of PUCDs.

Purpose of the Study:

  • To evaluate the evidence supporting the inclusion of PUCDs in newborn screening panels.
  • To assess PUCDs based on prevention potential, medical, diagnostic, treatment, and public health rationales.

Main Methods:

  • A literature review was conducted using PubMed with MESH terms for OTCD, CPS1D, and NAGSD.
  • A systematic review was performed adhering to NBS inclusion criteria.
  • 31 articles were reviewed to synthesize current evidence.

Main Results:

  • Molecular and biochemical diagnostic methods are available for PUCDs.
  • Early treatment of PUCDs can potentially mitigate developmental delay and mortality.
  • Tandem mass spectrometry is a viable NBS method, though current biomarkers like citrulline and glutamine require improved specificity.

Conclusions:

  • Existing medical treatments for PUCDs align with NBS inclusion criteria.
  • Enhancing NBS algorithms for sensitivity and specificity is crucial for earlier diagnosis and improved outcomes.
  • Expanding NBS for PUCDs holds promise for reducing long-term disability and mortality.