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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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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Systematic Error: Methodological and Sampling Errors01:15

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In the case of systematic errors, the sources can be identified, and the errors can be subsequently minimized by addressing these sources. According to the source, systematic errors can be divided into sampling, instrumental, methodological, and personal errors.
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Fundamental Attribution Error01:14

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According to some social psychologists, people tend to overemphasize internal factors as explanations—or attributions—for the behavior of other people. They tend to assume that the behavior of another person is a trait of that person, and to underestimate the power of the situation on the behavior of others. They tend to fail to recognize when the behavior of another is due to situational variables, and thus to the person’s state. This erroneous assumption is...
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Random Error01:04

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Random or indeterminate errors originate from various uncontrollable variables, such as variations in environmental conditions, instrument imperfections, or the inherent variability of the phenomena being measured. Usually, these errors cannot be predicted, estimated, or characterized because their direction and magnitude often vary in magnitude and direction even during consecutive measurements. As a result, they are difficult to eliminate. However, the aggregate effect of these errors can be...
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The margin of error is also called the maximum error of an estimate. The margin of error is the maximum possible or expected difference between the observed sample parameter value and the actual population parameter value. For proportion, it is the maximum difference between the value of sample proportion obtained from the data and the true value of population proportion. As the true value of the population parameter is not known, the margin of error is calculated using the sample statistic.
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Errors as a Means of Reducing Impulsive Food Choice
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Inborn errors of metabolism.

Carlos R Ferreira1, Clara D M van Karnebeek2

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States.

Handbook of Clinical Neurology
|July 21, 2019
PubMed
Summary
This summary is machine-generated.

Inborn errors of metabolism are treatable inherited metabolic diseases that often present with neurologic symptoms in newborns. Early identification of these conditions is crucial for timely intervention and improved outcomes.

Keywords:
Inborn errors of metabolismInherited metabolic diseasesNeonatal encephalopathyNeonatal hypotoniaNeonatal seizures

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Area of Science:

  • Biochemistry
  • Neurology
  • Pediatrics

Background:

  • Inborn errors of metabolism (IEMs), or inherited metabolic diseases, are a significant cause of neurologic signs in newborns.
  • While individually rare, IEMs are collectively common and many are treatable.
  • Recognizing IEMs is vital for prompt clinical management.

Purpose of the Study:

  • To review the clinical, laboratory, electrophysiologic, and neuroimaging findings of IEMs presenting with neurologic symptoms in neonates.
  • To enhance clinician awareness of IEMs and their typical neonatal manifestations.
  • To highlight the importance of early diagnosis for treatable metabolic disorders.

Main Methods:

  • Literature review of inborn errors of metabolism.
  • Synthesis of clinical presentations in newborns.
  • Analysis of laboratory, electrophysiologic, and neuroimaging data.
  • Summary of diagnostic findings for neonatal IEMs.

Main Results:

  • IEMs frequently manifest with significant neurologic signs and symptoms in the neonatal period.
  • Diverse clinical, laboratory, and imaging findings characterize different IEMs.
  • Specific patterns in clinical presentation, lab results, and imaging can aid diagnosis.

Conclusions:

  • Clinicians must be aware of IEMs as a differential diagnosis for neonatal neurologic disorders.
  • Early identification of IEMs is critical for initiating treatment and improving patient prognosis.
  • This review provides a comprehensive overview to aid in the diagnosis of neonatal IEMs.