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Beta-ketothiolase deficiency (BKT)

Borderline elevation of C5:1 acylcarnitine marker

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

2. What to do?

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

Clinical considerations:

  • Poor feeding, vomiting, lethargy, tachypnea
  • Ketonuria
  • Metabolic ketoacidosis
  • Hyperammonemia
  • Hypoglycemia

Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with metabolic specialists. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

b. 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.

3. If the infant has any signs or symptoms, you may wish to consult with a pediatric metabolic specialist or refer the patient to the Newborn Screening Clinic at Arkansas Children's Hospital. call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.

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

Critical elevation of C5:1 acylcarnitine

1. What does this mean? This infant may have Beta-ketothiolase deficiency. Further testing is required.

2. What to do:

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

Clinical considerations – symptoms vary, Generally:

  • May be asymptomatic
  • Poor feeding, vomiting, lethargy, and tachypnea
  • Hypoglycemia
  • Metabolic ketoacidosis
  • Hyperammonemia
  • Ketonuria

Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

3. Do the following tests NOW:

1. Plasma acylcarnitines

2. Urine quantitative organic acids on infant and mother

3. Routine labs – glucose, electrolytes, ammonia

4. Referral indicated: 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 the Newborn Screening Clinic at Arkansas Children's Hospital. Call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.

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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