Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic inventions. We report the only patient from our centre...

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Main Authors:	P.S. Atwal, C. Macmurdo, P.C. Grimm
Format:	Article
Language:	English
Published:	Elsevier 2015-09-01
Series:	Molecular Genetics and Metabolism Reports
Subjects:	Maple syrup urine disease Dialysis Haemodialysis Acute metabolic crisis
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426915300197

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spelling	doaj-2a821ef3ffb04bd09b6584ca754b23122020-11-24T23:13:56ZengElsevierMolecular Genetics and Metabolism Reports2214-42692015-09-014C464810.1016/j.ymgmr.2015.07.001Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine diseaseP.S. Atwal0C. Macmurdo1P.C. Grimm2Stanford University, Dept. of Pediatrics, Div. of Med. Genetics, 300 Pasteur Drive, Stanford, CA, 94305, United StatesStanford University, Dept. of Pediatrics, Div. of Med. Genetics, 300 Pasteur Drive, Stanford, CA, 94305, United StatesStanford University, Dept. of Pediatrics, Div. of Nephrology, 300 Pasteur Drive, Stanford, CA, 94305, United StatesAcute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic inventions. We report the only patient from our centre to have haemodialysis performed in this setting. Combined with dietary BCAA restriction and calorific support, haemodialysis allows rapid reduction in plasma leucine concentrations considerably faster than conservative methods.http://www.sciencedirect.com/science/article/pii/S2214426915300197Maple syrup urine diseaseDialysisHaemodialysisAcute metabolic crisis
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	P.S. Atwal C. Macmurdo P.C. Grimm
spellingShingle	P.S. Atwal C. Macmurdo P.C. Grimm Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease Molecular Genetics and Metabolism Reports Maple syrup urine disease Dialysis Haemodialysis Acute metabolic crisis
author_facet	P.S. Atwal C. Macmurdo P.C. Grimm
author_sort	P.S. Atwal
title	Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
title_short	Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
title_full	Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
title_fullStr	Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
title_full_unstemmed	Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
title_sort	haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
publisher	Elsevier
series	Molecular Genetics and Metabolism Reports
issn	2214-4269
publishDate	2015-09-01
description	Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic inventions. We report the only patient from our centre to have haemodialysis performed in this setting. Combined with dietary BCAA restriction and calorific support, haemodialysis allows rapid reduction in plasma leucine concentrations considerably faster than conservative methods.
topic	Maple syrup urine disease Dialysis Haemodialysis Acute metabolic crisis
url	http://www.sciencedirect.com/science/article/pii/S2214426915300197
work_keys_str_mv	AT psatwal haemodialysisisaneffectivetreatmentinacutemetabolicdecompensationofmaplesyrupurinedisease AT cmacmurdo haemodialysisisaneffectivetreatmentinacutemetabolicdecompensationofmaplesyrupurinedisease AT pcgrimm haemodialysisisaneffectivetreatmentinacutemetabolicdecompensationofmaplesyrupurinedisease
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Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

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