Background: Maple syrup urine disease (MSUD) is a rare genetic disease of metabolic disorder inherited as an autosomal recessive trait. The disease is caused by branched-chain alpha-keto acid dehydrogenase (BCKD) deficiency. It results in the accumulation of branched-chain amino acids (BCAA) which are toxic to the nervous system. Case Presentation: A one-week-old infant was brought to Siloam Hospital because she suddenly became lethargic, had a poor feeding, and an intermittent muscle spasm. She was the fourth child in her family. At her admission, she was diagnosed with neonatal sepsis. On advanced clinical and laboratory examination, we found ketoacidosis, hypoglycemia, and the typical odor of maple syrup in the urine. Plasma amino acids analysis showed a marked elevation of BCAA (leucine, isoleucine, and valine), confirming the diagnosis of MSUD. The patient was treated with intravenous glucose infusions and dietary support, including formulas free of BCAA. She was monitored for blood sugar and urine ketones. Conclusion: Metabolic disease should be considered in an infant who suddenly suffered a critical illness several days following a normal delivery.
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
Benzer Makaleler | Yazar | # |
---|
Makale | Yazar | # |
---|