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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...
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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...
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Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Mutations01:35

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Updated: Jun 5, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

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Published on: August 25, 2014

Genetic disorders in the newborn infant.

W S Meschino, A M Summers

    Canadian Family Physician Medecin De Famille Canadien
    |January 22, 2011
    PubMed
    Summary

    Genetic disorders in newborns can present in various ways, from physical abnormalities to sudden illness. This guide helps primary care physicians investigate and manage these critical infant health conditions.

    Area of Science:

    • Neonatal Medicine
    • Clinical Genetics
    • Pediatrics

    Background:

    • Genetic disorders are a significant cause of morbidity and mortality in neonates.
    • Clinical presentations vary widely, including dysmorphic features, congenital malformations, and acute illness in previously healthy newborns.

    Purpose of the Study:

    • To outline an approach for primary care physicians regarding the initial investigation and management of neonates with suspected genetic disorders.
    • To briefly discuss neonatal screening tests for metabolic disorders and congenital hypothyroidism.

    Main Methods:

    • Review of clinical situations requiring suspicion of genetic disorders in neonates.
    • Outline of an initial investigation and management strategy for primary care physicians.
    • Brief discussion of existing neonatal screening protocols.

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    Main Results:

    • Identified key clinical scenarios indicative of potential genetic disorders in neonates.
    • Provided a structured approach for primary care physicians to manage these cases.
    • Highlighted the importance and scope of neonatal screening tests.

    Conclusions:

    • Early recognition and appropriate initial management by primary care physicians are crucial for neonates with genetic disorders.
    • Neonatal screening plays a vital role in detecting treatable conditions like metabolic disorders and congenital hypothyroidism.
    • A systematic approach can improve outcomes for infants affected by genetic conditions.