![]() Conclusion: Continuous hemodiafiltration is an effective and safe method in correcting metabolic disturbances in MSUD. ![]() The mean leucine level was 1,648 ± 623.8 (714-2,768) μmol/l before and was 256.5 ± 150.6 (117-646) μmol/l at the end of treatment. Maple syrup urine disease (MSUD) was first described as a rapid onset of Menkes neurodegenerative disease in 1954.1 It is a defect of metabolism due to. Maple syrup urine disease occurs due to a pathogenic defect in any BCKAD subunit resulting in elevated branched-chain amino acids and their corresponding alpha keto-acids. The mean duration of CVVHDF was 20.2 ± 8.6 (9-36) h. Two of the 14 patients required 36 h of CVVHDF for neurological improvement. In this study, we aimed to identify simple variables associated with AMD in children with MSUD for use in emergency settings. Twelve patients responded to treatment and dramatic neurological improvement was observed within 24 h. Acute metabolic decompensation (AMD) of maple syrup urine disease (MSUD) must be promptly recognized and treated. ![]() Twenty seven percent (n = 4) of the patients were intubated and mechanically ventilated. We present a case of a female adult patient with Maple Syrup Urine Disease (MSUD) who had recurrent episodes of raised Branched Chain Amino Acids levels. Alanine flux rates in two patients with classical MSUD (3.76 and 4.00 mol/Kg per min) and the patient with partial MSUD (5.76 mol/Kg per min) were clearly. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course: 1224 hours. One patient required additional CVVHDF 1 week after cessation of CVVHDF. Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Results: Fourteen patients underwent 15 sessions of CVVHDF (age range 15 days to 87 months, mean 40.8 ± 31.4 months). Methods: All the neonates, infants and children who have had life threatening conditions due to MSUD and were treated with continuous venovenous hemodiafiltration (CVVHDF) were analyzed retrospectively. Background: The study aims to define the efficacy of continuous renal replacement therapy in acute metabolic decompensation treatment of maple syrup urine disease (MSUD).
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