Pediatrics 109:999–1008įrazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Strembridge A, Singh RH (2014) Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI (2002) Diagnosis and treatment of maple syrup disease: a study of 36 patients. Rodan LH, Aldubayan SH, Berry GT, Levy HL (2018) Acute illness protocol for maple syrup urine disease. ![]() ![]() J Inherit Metab Dis 25:89–97īlackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS (2017) Maple syrup urine disease: mechanisms and management. ĭursun A, Henneke M, Ozgul K, Gartner J, Coşkun T, Tokatli A, Kalkanoglu HS, Demirkol M, Wendel U, Ozalp I (2002) Maple syrup urine disease: mutation analysis in Turkish patients. Accessed 2 June 2019Ĭarleton SM, Peck DS, Grasela J, Dietiker KL, Phillips CL (2010) DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE (eds) GeneReviews. Strauss KA, Puffenberger EG, Morton DH (2013) Maple syrup urine disease. These simple parameters can help determine the presence of AMD in emergency settings. Poor feeding and malaise are clues before the onset of neurological symptoms. Although sodium, chloride, and glucose were lower in AMD, they had little diagnostic value.Ĭonclusion: In children with MSUD, uric acid and anion gap are key markers for AMD. Vomiting, dehydration, neurological signs, ketonuria, and ketoaciduria were also associated with AMD. Most important variables independently associated with AMD were poor feeding, malaise, anion gap, and especially uric acid, which correlated with leucine levels. Cut-off values of laboratory variables were determined with receiver operating characteristic curves and correlations with Spearman’s rank correlation. Logistic regression was used to identify independent variables associated with decompensations. Variables in visits with and without AMD were compared using t test, Mann-Whitney U test, and chi-square test. Data were collected retrospectively from 115 emergency visits of 29 children with MSUD over a 4-year period in a major referral hospital. ![]() In this study, we aimed to identify simple variables associated with AMD in children with MSUD for use in emergency settings. Acute metabolic decompensation (AMD) of maple syrup urine disease (MSUD) must be promptly recognized and treated.
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