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Related Concept Videos

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

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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 a challenge in...
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Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...

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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Published on: June 25, 2010

Propionic acidemia: neonatal versus selective metabolic screening.

S C Grünert1, S Müllerleile, L de Silva

  • 1Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.

Journal of Inherited Metabolic Disease
|December 3, 2011
PubMed
Summary
This summary is machine-generated.

Newborn screening (NBS) for propionic acidemia (PA) may lower mortality rates. However, NBS did not improve clinical outcomes or neurocognitive development in surviving PA patients compared to selective metabolic screening.

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Area of Science:

  • Metabolic disorders
  • Genetics and genomics
  • Pediatrics

Background:

  • Propionic acidemia (PA) is a target disease for newborn screening (NBS) in some countries, but not all.
  • Limited data exists on the benefits of NBS for PA.

Purpose of the Study:

  • To evaluate the clinical benefit of NBS for PA.
  • To compare outcomes between PA patients diagnosed via NBS and those diagnosed via selective metabolic screening (SMS).

Main Methods:

  • Retrospective analysis of clinical and biochemical data from 55 PA patients (20 diagnosed via NBS, 35 via SMS) across 16 centers.
  • Assessment of intellectual quotient (IQ) and estimation of mortality rates over 20 years.

Main Results:

  • NBS diagnosis did not correlate with a milder clinical course or better neurological outcomes.
  • A significant percentage of PA patients exhibited intellectual disability (IQ <69) and impaired physical development.
  • Mortality rates were lower in the PA patients diagnosed through NBS compared to those diagnosed via SMS.

Conclusions:

  • While NBS for PA may be associated with reduced mortality, it does not appear to improve clinical outcomes or neurocognitive development in survivors.
  • Further research is needed to fully understand the long-term impact of NBS on PA patients.