The urine of these infants smelled like maple syrup or burned sugar, whence the disease got its name of maple syrup urine disease or MSUD. The family in Menkes’s case study had lost four infants within the first 3 months of life to a previously undescribed degenerative disorder of the nervous system. Menkes, a pediatrician, and his colleagues. Strict adherence to this diet is necessary to prevent developmental delays, mental retardation, and recurrent metabolic crises leading to respiratory failure and death.
MAPLE SYRUP URINE DISEASE MEDICINE FREE
The special diet associated with MSUD is a low-protein diet characterized by restriction of a specific amino acid known as leu-cine the use of high-calorie liquid or gel formulas that are free of branched-chain amino acids ( BCAA s) and frequent monitoring of the BCAA levels in the patient’s blood plasma. All rights reserved.Maple syrup urine disease ( MSUD ), which is also known as branched-chain ketoaciduria, branched-chain alpha-keto acid dehydrogenase deficiency, or BCKD deficiency, is a rare but potentially fatal inherited metabolic disorder ( IMD ) passed down in an autosomal recessive pattern. The biochemistry and physiology of MSUD and its response to liver transplantation afford key insights into the design of new therapies based on gene replacement or editing.īranched-chain amino acids Liver transplantation Maple syrup urine disease Natural history.Ĭopyright © 2020 The Authors. There is a critical unmet need for safe and effective disease-modifying therapies for MSUD which can be implemented early in life. Liver transplantation eliminates the need for a prescription diet and safeguards patients from life-threatening metabolic crises, but is associated with predictable morbidities and does not reverse pre-existing neurological sequelae. Stringent dietary therapy maintains metabolic variables within acceptable limits but is challenging to implement, fails to restore appropriate concentration relationships among circulating amino acids, and does not fully prevent cognitive and psychiatric disabilities. Despite advances in clinical care, classic MSUD remains a morbid and potentially fatal disorder. Standard instruments were used to measure neuropsychiatric outcomes. A total of 13,589 amino acid profiles were used to analyze leucine tolerance, amino acid homeostasis, estimated cerebral amino acid uptake, quantitative responses to anabolic therapy, and metabolic control after liver transplantation. We collected data about treatment, survival, hospitalization, metabolic control, and liver transplantation from patients with classic (i.e., severe n = 176), intermediate (n = 6) and intermittent (n = 2) forms of MSUD. Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD) phenotype. 10 Clinic for Special Children, Strasburg, PA, USA Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA Central Pennsylvania Clinic, Belleville, PA, USA.duPont Hospital for Children, Wilmington, DE, USA. 9 Department of Pediatrics, Nemours Alfred I.
8 Department of Internal Medicine, The Permanente Medical Group, Santa Clara, CA, USA.7 Wellspan Philhaven, Mount Gretna, PA, USA.duPont Hospital for Children, Wilmington, DE, USA Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA. 6 Department of Pediatrics, Nemours Alfred I.5 Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.4 Clinic for Special Children, Strasburg, PA, USA.3 Hillman Center for Pediatric Transplantation, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.Electronic address: 2 Clinic for Special Children, Strasburg, PA, USA Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA. 1 Clinic for Special Children, Strasburg, PA, USA Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA Departments of Pediatrics and Molecular, Cell & Cancer Biology, University of Massachusetts School of Medicine, Worcester, MA, USA.
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