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    Dr Raja
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    A 20-day-old male baby presented with poor feeding, letharginess, and seizures, and his mother noticed a peculiar odor from him. Tests ruled out sepsis but found elevated levels of leucine, iso-leucine, valine, and low carnitine via tandem mass spectroscopy and amino acid testing of CSF and plasma, leading to a diagnosis of maple syrup urine disease. The child's condition improved and seizures reduced when given a special diet lacking leucine, iso-leucine, and valine.

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    A 20-day-old male baby presented with poor feeding, letharginess, and seizures, and his mother noticed a peculiar odor from him. Tests ruled out sepsis but found elevated levels of leucine, iso-leucine, valine, and low carnitine via tandem mass spectroscopy and amino acid testing of CSF and plasma, leading to a diagnosis of maple syrup urine disease. The child's condition improved and seizures reduced when given a special diet lacking leucine, iso-leucine, and valine.

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    © All Rights Reserved
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    30 views1 page

    Poster Abstract Pedicon

    Uploaded by

    Dr Raja
    A 20-day-old male baby presented with poor feeding, letharginess, and seizures, and his mother noticed a peculiar odor from him. Tests ruled out sepsis but found elevated levels of leucine, iso-leucine, valine, and low carnitine via tandem mass spectroscopy and amino acid testing of CSF and plasma, leading to a diagnosis of maple syrup urine disease. The child's condition improved and seizures reduced when given a special diet lacking leucine, iso-leucine, and valine.

    Copyright:

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

    ABSTRACT FOR E-POSTER

    A CASE OF MAPLE SYRUP URINE DISEASE


    POST GRADUATE:DR.A.RAJA
    CHIEF:PROF.DR.M.BALASUBRAMANIAN MD,DCH.
    ASST PROF:DR.J.BALASUBRAMANIAN MD.
    DR. SANGEETH MD.

    ABSTRACT
    A 20 Days old male baby first order birth of 3°CM with a
    normal ante-natal history,presented with complaint of
    poor feeding & letharginess from day 10 of life,
    seizure on day 20 of life, mother could feel a peculiar
    odour from the baby.Sepsis work up was Negative. CSF
    cytology and biochemistry were normal. No growth in CSF
    culture. Metabolic work up was done. Tandem Mass
    Spectroscopy showed elevated leucine,iso-leucine ,Valine
    and low carnitine. CSF & Plasma Amino acids level
    elevated, Suggestive of Maple Syrup Urine Disease. Child
    was started with special feed which lack of Leucine. iso-
    leucine & Valine. Child’s general condition was improved
    and Seizure activity reduced.

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