Johannes Zschocke K. Michael Gibson Garry Brown Eva Morava Verena Peters Editors JIMD Reports Volume 15 JIMD Reports Volume 15 . Johannes Zschocke • K. Michael Gibson Editors-in-Chief Garry Brown • Eva Morava Editors Verena Peters Managing Editor JIMD Reports Volume 15 Editor-in-Chief Editor Johannes Zschocke Eva Morava Division of Human Genetics Tulane University Medical School Medical University Innsbruck New Orleans Innsbruck Louisiana Austria USA Editor-in-Chief Managing Editor K. Michael Gibson Verena Peters WSU Division of Health Sciences Center for Child and Adolescent Clinical Pharmacology Unit Medicine Spokane Heidelberg University Hospital USA Heidelberg Germany Editor Garry Brown University of Oxford Department of Biochemistry Genetics Unit Oxford United Kingdom ISSN 2192-8304 ISSN 2192-8312 (electronic) ISBN 978-3-662-43750-6 ISBN 978-3-662-43751-3 (eBook) DOI 10.1007/978-3-662-43751-3 Springer Heidelberg New York Dordrecht London # SSIEM and Springer-Verlag Berlin Heidelberg 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. 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Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) Contents 4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3 .......... 1 James J Pitt, Frank Willis, Nicholas Tzanakos, Ruth Belostotsky, and Yaacov Frishberg Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood .......................................................... 7 Anne Roubergue, Bertrand Philibert, Agne`s Gautier, Alice Kuster, Karine Markowicz, Thierry Billette de Villemeur, Sandrine Vuillaumier-Barrot, Sophie Nicole, Emmanuel Roze, and Diane Doummar Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment............................................... 13 Sanne van Dongen, Ruth M. Brown, Garry K. Brown, David R. Thorburn, and Avihu Boneh Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes ......................................... 29 Kelly D. Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, Hong Lu, Joan E. Pellegrino, Ryan T. Miller, Wenqi Zeng, and Elizabeth C. Chao Report of Two Never Treated Adult Sisters with Aromatic L-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype? ............................................ 39 Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, Andre´ B.P. van Kuilenburg, Carla Carducci, Martino Ruggieri, Rita Barone, Barbara Tavazzi, Nico G.G.M. Abeling, Lida Zoetekouw, Vito Sofia, Mario Zappia, and Claudia Carducci Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations ......................... 47 Clara D.M. van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, Birgit Assmann, Peter Baxter, Daniela Buhas, Levinus A. Bok, Barbara Cheng, Curtis R. Coughlin II, Anibh M. Das, Alette Giezen, Wahla Al-Hertani, Gloria Ho, Uta Meyer, Philippa Mills, Barbara Plecko, Eduard Struys, Keiko Ueda, Monique Albersen, Nanda Verhoeven, Sidney M. Gospe Jr, Renata C. Gallagher, Johan K.L. Van Hove, and Hans Hartmann Mortality in Patients with Morquio Syndrome A ............................ 59 Christine Lavery and Chris Hendriksz v vi Contents Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease ......................................... 67 Erin R. McNamara, Jennifer Sullivan, Shashi K. Nagaraj, John S. Wiener, and Priya S. Kishnani Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.................................. 71 Daria Diodato, Federica Invernizzi, Eleonora Lamantea, Gigliola Fagiolari, Rossella Parini, Francesca Menni, Giancarlo Parenti, Lina Bollani, Elisabetta Pasquini, Maria A. Donati, Denise Cassandrini, Filippo M. Santorelli, Tobias B. Haack, Holger Prokisch, Daniele Ghezzi, Costanza Lamperti, and Massimo Zeviani Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead ..................................... 79 Brook M. Pyhtila, Kelly A. Shaw, Samantha E. Neumann, and Judith L. Fridovich-Keil Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations ........................................................... 95 Elena Fridman, Avraham Zeharia, Tal Markus-Eidlitz, and Yishai Haimi Cohen Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta ® ® (Fabrazyme ) to Agalsidase Alfa (Replagal ) .............................. 105 Kazuya Tsuboi, Hiroshi Yamamoto, Fuji Somura, and Hiromi Goto Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy ................................................ 113 Clara van Karnebeek, Gabriella Horvath, Tyler Murphy, Jacqueline Purtzki, Kristin Bowden, Sandra Sirrs, Christopher R. Honey, and Sylvia Stockler Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase- Deficient Niemann-Pick Disease in Adulthood.............................. 117 Olivier Lidove, Fre´de´ric Sedel, Fre´de´ric Charlotte, Roseline Froissart, and Marie T. Vanier Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis.................................................... 123 Paulina Nieves Cobos, Cordula Steglich, Rene´ Santer, Zoltan Lukacs, and Andreas Gal Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead........................ 133 Brook M. Pyhtila, Kelly A. Shaw, Samantha E. Neumann, and Judith L. Fridovich-Keil JIMD Reports DOI 10.1007/8904_2013_291 RESEARCH REPORT 4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3 James J Pitt • Frank Willis • Nicholas Tzanakos • Ruth Belostotsky • Yaacov Frishberg Received: 22 April 2013 /Revised: 09 November 2013 /Accepted: 25 November 2013 /Published online: 22 February 2014 # SSIEM and Springer-Verlag Berlin Heidelberg 2014 Abstract Primary hyperoxaluria type 3 (PH3) is a recently Its measurement was readily incorporated into an existing identified inborn error of 4-hydroxyproline metabolism multi-analyte panel for comprehensive screening for inborn causing kidney stone disease. Diagnosis to date has relied errors of metabolism. There was a steady decline with age on mutation detection. The excretion of 4-hydroxygluta- in 4OHGlu levels, expressed as mmol/mmol of creatinine, mate (4OHGlu) was investigated in controls and a cohort of in controls. Levels in patients with PH3 ranged from 6.5 to nine patients with PH3 and their parents using flow 98 mmol/mmol of creatinine and were all significantly injection tandem mass spectrometry. 4OHGlu was stable increased when compared to age-matched controls (<4.2). in acidified urine samples and was not influenced by diet. Levels in eight parents (obligatory carriers of the corresponding mutation) were moderately, but significantly increased, ranging from 0.6 to 2.5 (age-matched controls Communicated by: Rodney Pollitt, PhD <1.4, p ¼ 0.03). Urine 4OHGlu screening was used to Competing interests: None declared prospectively diagnose PH3 in an 18-month-old boy with Electronic supplementary material: The online version of this calcium oxalate kidney stone disease associated with chapter (doi:10.1007/8904_2013_291) contains supplementary hyperoxaluria. 4OHGlu was also increased in a stored material, which is available to authorized users. : newborn screening dried blood spot sample from this child J.J. Pitt N. Tzanakos (37 mmol/L, controls <2.53). 4OHGlu testing provides a Victorian Clinical Genetics Services, Murdoch Childrens Research robust