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  • IN BORN ERRORS-WPS Office

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    Whirmey Chinyama
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    This document discusses inborn errors in metabolism. It notes that these errors are usually autosomal and lists common clinical features like hypoglycemia, metabolic acidosis, and convulsions. It recommends diagnosing these conditions through tests of creatine, liver enzymes, blood glucose, and ketones. The document outlines management of these errors by correcting hypoglycemia, maintaining hydration and ventilation, treating electrolyte abnormalities, and using dialysis or medications if needed. It gives examples of specific inborn errors like phenylketonuria.

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    Child's health

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    This document discusses inborn errors in metabolism. It notes that these errors are usually autosomal and lists common clinical features like hypoglycemia, metabolic acidosis, and convulsions. It recommends diagnosing these conditions through tests of creatine, liver enzymes, blood glucose, and ketones. The document outlines management of these errors by correcting hypoglycemia, maintaining hydration and ventilation, treating electrolyte abnormalities, and using dialysis or medications if needed. It gives examples of specific inborn errors like phenylketonuria.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
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    10 views1 page

    IN BORN ERRORS-WPS Office

    Uploaded by

    Whirmey Chinyama
    This document discusses inborn errors in metabolism. It notes that these errors are usually autosomal and lists common clinical features like hypoglycemia, metabolic acidosis, and convulsions. It recommends diagnosing these conditions through tests of creatine, liver enzymes, blood glucose, and ketones. The document outlines management of these errors by correcting hypoglycemia, maintaining hydration and ventilation, treating electrolyte abnormalities, and using dialysis or medications if needed. It gives examples of specific inborn errors like phenylketonuria.

    Copyright:

    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 1

    IN BORN ERRORS IN METABOLISM

    Patient group

    The mode of enterly is usually autosomal

    Clinic features

     Hypoglycemia
     Metabolic acidosis
     Convulsions
     Comea
     Unusual body odor
     Diarrhea
     Jaundice
     Liver disease

    Diagnosis

     Creatine, urea and electrolytes


     Liver enzymes
     Blood glucose
     Dipstick ketones
     Congulaion test

    Management

     Hypoglycemia is corrected
     Adequate ventilator support and hydration are maintained
     Electrolytes abnormalities are corrected
     Occasionally dialysis may be required
     Convulsions are treated

    In born errors

     Phenylketonurie
    An autosomal recessive disorder caused by amion acid. Babies born in this condition are normal
    but if not treated early can lead to.............

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