Refeeding syndrome in a young woman with argininosuccinate lyase deficiency

A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate (GPB). The patient required IV supportive care an...

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Main Authors:	M. Stuy, G.-F. Chen, J.M. Masonek, B.F. Scharschmidt
Format:	Article
Language:	English
Published:	Elsevier 2015-09-01
Series:	Molecular Genetics and Metabolism Reports
Subjects:	Refeeding syndrome Argininosuccinate lyase deficiency Hyperammonemia Glycerol phenylbutyrate
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426915300033

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spelling	doaj-c053b205b9cf4bcdaff813496ec087642020-11-24T23:37:15ZengElsevierMolecular Genetics and Metabolism Reports2214-42692015-09-014C6810.1016/j.ymgmr.2015.03.008Refeeding syndrome in a young woman with argininosuccinate lyase deficiencyM. Stuy0G.-F. Chen1J.M. Masonek2B.F. Scharschmidt3Department of Medical and Molecular Genetics, Division of Clinical and Biochemical Genetics, Indiana University School of Medicine, Indianapolis, IN, United StatesHyperion Therapeutics, Inc., Brisbane, CA, United StatesHyperion Therapeutics, Inc., Brisbane, CA, United StatesHyperion Therapeutics, Inc., Brisbane, CA, United StatesA severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate (GPB). The patient required IV supportive care and supplementation with potassium, magnesium and calcium. She is now doing well on GPB and an appropriate maintenance diet. Susceptibility to RFS should be considered in chronically nutritionally restricted patients with metabolic disorders after liberalization of diet.http://www.sciencedirect.com/science/article/pii/S2214426915300033Refeeding syndromeArgininosuccinate lyase deficiencyHyperammonemiaGlycerol phenylbutyrate
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	M. Stuy G.-F. Chen J.M. Masonek B.F. Scharschmidt
spellingShingle	M. Stuy G.-F. Chen J.M. Masonek B.F. Scharschmidt Refeeding syndrome in a young woman with argininosuccinate lyase deficiency Molecular Genetics and Metabolism Reports Refeeding syndrome Argininosuccinate lyase deficiency Hyperammonemia Glycerol phenylbutyrate
author_facet	M. Stuy G.-F. Chen J.M. Masonek B.F. Scharschmidt
author_sort	M. Stuy
title	Refeeding syndrome in a young woman with argininosuccinate lyase deficiency
title_short	Refeeding syndrome in a young woman with argininosuccinate lyase deficiency
title_full	Refeeding syndrome in a young woman with argininosuccinate lyase deficiency
title_fullStr	Refeeding syndrome in a young woman with argininosuccinate lyase deficiency
title_full_unstemmed	Refeeding syndrome in a young woman with argininosuccinate lyase deficiency
title_sort	refeeding syndrome in a young woman with argininosuccinate lyase deficiency
publisher	Elsevier
series	Molecular Genetics and Metabolism Reports
issn	2214-4269
publishDate	2015-09-01
description	A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate (GPB). The patient required IV supportive care and supplementation with potassium, magnesium and calcium. She is now doing well on GPB and an appropriate maintenance diet. Susceptibility to RFS should be considered in chronically nutritionally restricted patients with metabolic disorders after liberalization of diet.
topic	Refeeding syndrome Argininosuccinate lyase deficiency Hyperammonemia Glycerol phenylbutyrate
url	http://www.sciencedirect.com/science/article/pii/S2214426915300033
work_keys_str_mv	AT mstuy refeedingsyndromeinayoungwomanwithargininosuccinatelyasedeficiency AT gfchen refeedingsyndromeinayoungwomanwithargininosuccinatelyasedeficiency AT jmmasonek refeedingsyndromeinayoungwomanwithargininosuccinatelyasedeficiency AT bfscharschmidt refeedingsyndromeinayoungwomanwithargininosuccinatelyasedeficiency
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Refeeding syndrome in a young woman with argininosuccinate lyase deficiency

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