JIMD Reports - Case and Research Reports, 2012/2
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemica
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SSIEM
JIMD Reports – Case and Research Reports, 2012/2
Editor Society for the Study of Inborn Errors of Metabolism c/o ACB Tooley St 130-132 SE1 2TU London United Kingdom
ISSN 2192-8304 e-ISSN 2192-8312 ISBN 978-3-642-28095-5 e-ISBN 978-3-642-28096-2 DOI 10.1007/978-3-642-28096-2 Springer Heidelberg Dordrecht London New York # SSIEM and Springer-Verlag Berlin Heidelberg 2012 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer. Violations are liable to prosecution under the German Copyright Law. The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
Contents
Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Ahmad N. Alodaib, Kevin Carpenter, Veronica Wiley, Tiffany Wotton, John Christodoulou, and Bridget Wilcken Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism . . . . . . . . . . . 7 Mashbat Bayarchimeg, Dunia Ismail, Amanda Lam, Derek Burk, Jeremy Kirk, Wolfgang Hogler, Sarah E Flanagan, Sian Ellard, and Khalid Hussain Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13 Christiaan P. Sentner, Kadir Caliskan, Wim B. Vletter, and G. Peter A. Smit Unusual Cardiac ‘‘Masses’’ in a Newborn with Infantile Pompe Disease . . . . . . . . . . 17 Daniel T. Swarr, Beth Kaufman, Mark A. Fogel, Richard Finkel, and Jaya Ganesh The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients . . . . . . . . . 21 Veˇra Malinova´, Grzegorz We˛grzyn, and Magdalena Narajczyk Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27 A. Vanclooster, R. Devlieger, W. Meersseman, A. Spraul, K. Vande Kerckhove, P. Vermeersch, A. Meulemans, K. Allegaert, and D. Cassiman Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S-Sulfocysteine in Urine and Serum . . . . . . . . . . . . . . . . . . . . . . .
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