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Maple Syrup Urine Disease (MSUD)

Borderline elevation of leucine

What does this mean? This infant may have an inborn error of metabolism.

Follow these steps:

  1. Contact parent/guardian to check on the health of the infant.

Clinical considerations:

  • Failure to thrive

  • Feeding intolerance

  • Vomiting

  • Lethargy

  • Tachypnea

  • Ketoacidosis

  • Maple syrup odor to urine

Referral: If the infant has any signs or symptoms you may wish to consult with a pediatric metabolic specialist or you may wish to refer the patient to the Newborn Screening Clinic at Arkansas Children's Hospital. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  1. Draw and submit a repeat HL-11 newborn screen specimen to the health department

Reasons for an abnormal newborn screening and normal follow up testing:

  • Supersaturating or "layering" of blood on filter paper
  • Liver immaturity
  • Infant is on total parenteral nutrition.
  • No dietary intervention is needed at this time. Continue to feed the baby as usual.

For more information, refer to the health department (ADH) letter that was faxed to you and information at the ADH website.

Critical elevation of leucine

What does this mean? This infant may have Maple Syrup Urine Disease. Further testing is required.

Follow these steps:

  1. Contact parent/guardian TODAY to check on the health of the infant.

Clinical considerations:

  • Feeding intolerance
  • Vomiting
  • Lethargy
  • Ketoacidosis
  • Maple syrup odor to urine or cerumen
  • Do these lab tests NOW:
  • Plasma amino acids
  • Urine Organic acids
  • Urine Ketones
  • Routine labs – glucose, electrolytes, lactate, ammonia

REFERRAL: IF THE INFANT HAS ANY SIGNS OR SYMPTOMS, OR IF TESTING CONFIRMS THE DIAGNOSIS, a referral to a pediatric metabolic specialist is recommended. For assistance with clinical evaluation and testing, you may wish to refer the patient to Newborn Screening Clinic at Arkansas Children's Hospital. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

For more information, refer to the health department (ADH) letter that was faxed to you and information at the ADH website.

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