Elevated Leucine, Isoleucine, and Other Branched-Chain Amino Acids Provider Fact Sheet Positive Result: Blood Spot Screen Result Notification Next Steps Today, you should take the following recommended acons: • Consult with a metabolic specialist. Contact informaon for the metabolic specialists can be found on the resource list provided. • Contact family to nofy them of the newborn screening result and assess symptoms. • Evaluate infant (poor feeding, lethargy, tachypnea, alternang hypertonia/hypotonia, and seizures); arrange immediate referral if symptomac. • Arrange referral to a metabolic specialist for further diagnosc work-up. If you have quesons about the newborn screening result or your next steps, an on-call Newborn Screening Program genec counselor is available at (651) 201-3548. Review with Family Discuss this result with the family as MDH has not nofied them. Share the follow-up plan with them. Educate family about hyperammonemia. Discuss signs, symptoms, and when to contact you with concerns. False Positives Screening result can be impacted by specimen collecon before 24 hours. Differential Diagnosis Elevated leucine, isoleucine, and other branched- chain amino acids are primarily associated with: • Maple syrup urine disease (MSUD) — Incidence of 1 in 185,000 (incidence of 1 in 380 in the Old Order Mennonite populaons; also more common in people of French-Canadian ancestry and Ashkenazi Jewish ancestry) Other disorders to consider: • Hydroxyprolinemia (probably benign) Clinical Summary In MSUD, leucine, isoleucine, and other branched chain amino acids cannot be metabolized further than their alpha-ketoacid derivaves. This leads to toxic accumulaons. The condion gets its name from the disncve maple syrup smell from an affected infant’s urine. The most common and severe form of MSUD has a neonatal onset. MSUD presents with poor feeding, voming, lethargy, alternang hypertonia/hypotonia, and delayed development. If untreated, symptoms can progress to include seizures, coma, cerebral edema, and death. Treatment includes lifelong dietary restricon of protein. Thiamine supplements are helpful for some children with MSUD and may be prescribed. Some children may sll develop symptoms of MSUD even with treatment. Newborn Screening Program, 601 Robert St. N., St. Paul, MN 55155 Phone (800) 664-7772, Fax (651) 215-6285 REV 12/2018 Minnesota Newborn Screening Program
Elevated Leucine, Isoleucine, and Other Branched-Chain Amino Acids
Nov 07, 2022
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Elevated Leucine, Isoleucine, and Other Branched-Chain Amino Acids Provider Fact SheetProvider
Next Steps Today, you should take the following recommended actions:
• Consult with a metabolic specialist. Contact information for the metabolic specialists can be found on the resource list provided.
• Contact family to notify them of the newborn screening result and assess symptoms.
• Evaluate infant (poor feeding, lethargy, tachypnea, alternating hypertonia/hypotonia, and seizures); arrange immediate referral if symptomatic.
• Arrange referral to a metabolic specialist for further diagnostic work-up.
If you have questions about the newborn screening result or your next steps, an on-call Newborn Screening Program genetic counselor is available at (651) 201-3548.
Review with Family Discuss this result with the family as MDH has not notified them. Share the follow-up plan with them. Educate family about hyperammonemia. Discuss signs, symptoms, and when to contact you with concerns.
False Positives Screening result can be impacted by specimen collection before 24 hours.
Differential Diagnosis Elevated leucine, isoleucine, and other branched- chain amino acids are primarily associated with:
• Maple syrup urine disease (MSUD) — Incidence of 1 in 185,000 (incidence of 1 in 380 in the Old Order Mennonite populations; also more common in people of French-Canadian ancestry and Ashkenazi Jewish ancestry)
Other disorders to consider:
• Hydroxyprolinemia (probably benign)
Clinical Summary In MSUD, leucine, isoleucine, and other branched chain amino acids cannot be metabolized further than their alpha-ketoacid derivatives. This leads to toxic accumulations. The condition gets its name from the distinctive maple syrup smell from an affected infant’s urine.
The most common and severe form of MSUD has a neonatal onset. MSUD presents with poor feeding, vomiting, lethargy, alternating hypertonia/hypotonia, and delayed development. If untreated, symptoms can progress to include seizures, coma, cerebral edema, and death.
Treatment includes lifelong dietary restriction of protein. Thiamine supplements are helpful for some children with MSUD and may be prescribed.
Some children may still develop symptoms of MSUD even with treatment.
Newborn Screening Program, 601 Robert St. N., St. Paul, MN 55155 Phone (800) 664-7772, Fax (651) 215-6285 REV 12/2018
Minnesota Newborn Screening Program
Next Steps Today, you should take the following recommended actions:
• Consult with a metabolic specialist. Contact information for the metabolic specialists can be found on the resource list provided.
• Contact family to notify them of the newborn screening result and assess symptoms.
• Evaluate infant (poor feeding, lethargy, tachypnea, alternating hypertonia/hypotonia, and seizures); arrange immediate referral if symptomatic.
• Arrange referral to a metabolic specialist for further diagnostic work-up.
If you have questions about the newborn screening result or your next steps, an on-call Newborn Screening Program genetic counselor is available at (651) 201-3548.
Review with Family Discuss this result with the family as MDH has not notified them. Share the follow-up plan with them. Educate family about hyperammonemia. Discuss signs, symptoms, and when to contact you with concerns.
False Positives Screening result can be impacted by specimen collection before 24 hours.
Differential Diagnosis Elevated leucine, isoleucine, and other branched- chain amino acids are primarily associated with:
• Maple syrup urine disease (MSUD) — Incidence of 1 in 185,000 (incidence of 1 in 380 in the Old Order Mennonite populations; also more common in people of French-Canadian ancestry and Ashkenazi Jewish ancestry)
Other disorders to consider:
• Hydroxyprolinemia (probably benign)
Clinical Summary In MSUD, leucine, isoleucine, and other branched chain amino acids cannot be metabolized further than their alpha-ketoacid derivatives. This leads to toxic accumulations. The condition gets its name from the distinctive maple syrup smell from an affected infant’s urine.
The most common and severe form of MSUD has a neonatal onset. MSUD presents with poor feeding, vomiting, lethargy, alternating hypertonia/hypotonia, and delayed development. If untreated, symptoms can progress to include seizures, coma, cerebral edema, and death.
Treatment includes lifelong dietary restriction of protein. Thiamine supplements are helpful for some children with MSUD and may be prescribed.
Some children may still develop symptoms of MSUD even with treatment.
Newborn Screening Program, 601 Robert St. N., St. Paul, MN 55155 Phone (800) 664-7772, Fax (651) 215-6285 REV 12/2018
Minnesota Newborn Screening Program
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