JIMD Reports, Volume 41

Eva Morava Matthias Baumgartner Marc Patterson Shamima Rahman Johannes Zschocke Verena Peters Editors

JIMD Reports Focus Issue: Adults and Metabolism Volume 41

JIMD Reports Volume 41

Eva Morava Editor-in-Chief Matthias Baumgartner • Marc Patterson • Shamima Rahman • Johannes Zschocke Editors Verena Peters Managing Editor

JIMD Reports Focus Issue: Adults and Metabolism Volume 41

Editor-in-Chief Eva Morava Tulane University Medical School New Orleans Louisiana USA

Editor Matthias Baumgartner Division of Metabolism & Children’s Research Centre University Children’s Hospital Z€ urich Z€urich Switzerland

Editor Marc Patterson Division of Child and Adolescent Neurology Mayo Clinic Rochester Minnesota USA

Editor Shamima Rahman Clinical and Molecular Genetics Unit UCL Institute of Child Health London UK

Editor Johannes Zschocke Division of Human Genetics Medical University Innsbruck Innsbruck Austria

Managing Editor Verena Peters Center for Child and Adolescent Medicine Heidelberg University Hospital Heidelberg Germany

ISSN 2192-8304 ISSN 2192-8312 (electronic) JIMD Reports ISBN 978-3-662-58080-6 ISBN 978-3-662-58081-3 (eBook) https://doi.org/10.1007/978-3-662-58081-3 # Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018 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. The use of general descriptive names, registered names, trademarks, service marks, 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. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer-Verlag GmbH, DE part of Springer Nature. The registered company address is: Heidelberger Platz 3, 14197 Berlin, Germany

Contents

Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . A. S. Davison, B. Norman, A. M. Milan, A. T. Hughes, M. Khedr, J. Rovensky, J. A. Gallagher, and L. R. Ranganath Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation . . . . . . . . . . . . . . P. Phowthongkum, C. Ittiwut, and V. Shotelersuk Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease . . . . . . . . . . . . . . Karolina M. Stepien, Su Han Lum, J. Edmond Wraith, Christian J. Hendriksz, Heather J. Church, David Priestman, Frances M. Platt, Simon Jones, Ana Jovanovic, and Robert Wynn Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example . . . . . . . . . . . . . . . . . . . Adam C. Cotton, R. B. Bell, and H. A. Jinnah Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 . . . . . . Karolina M. Stepien, Gregory M. Pastores, Una Hendroff, Ciara McCormick, Patricia Fitzimons, Naveed Khawaja, Ingrid Borovickova, and Eileen P. Treacy The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Alexandra Ivleva, Ekaterina Weith, Atul Mehta, and Derralynn A. Hughes Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . William A. Zeiger, Nasheed I. Jamal, Maren T. Scheuner, Patricia Pittman, Kimiyo M. Raymond, Massimo Morra, and Shri K. Mishra Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Bryony Langford, Megan Besford, Aime´e Hall, Lucy Eddowes, Oliver Timmis, James A. Gallagher, and Lakshminarayan Ranganath

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Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti, Carolyn L. Taylor, Barry J. Byrne, and W. Todd Cade Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature . . . . . . . . . . . . . . . . . . . . . . . Josefine Loeb, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, and Asmus Vogel Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series . . . . . . A. Selvanathan, C. Ellaway, C. Wilson, P. Owens, P. J. Shaw, and K. Bhattacharya Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Olivia Ambler, Emma Medford, and Dougal J. Hare P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years . . . . . . . . Hiroshi Kobayashi, Masamichi Ariga, Yohei Sato, Masako Fujiwara, Nei Fukasawa, Takahiro Fukuda, Hiroyuki Takahashi, Masahiro Ikegami, Motomichi Kosuga, Torayuki Okuyama, Yoshikatsu Eto, and Hiroyuki Ida Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . A. S. Davison, B. P. Norman, E. A. Smith, J. Devine, J. Usher, A. T. Hughes, M. Khedr, A. M. Milan, J. A. Gallagher, and L. R. Ranganath Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Gerald F. Cox, Lorne A. Clarke, Roberto Giugliani, and Margaret M. McGovern

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JIMD Reports DOI 10.1007/8904_2017_72

RESEARCH REPORT

Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment A. S. Davison • B. Norman • A. M. Milan • A. T. Hughes • M. Khedr • J. Rovensky • J. A. Gallagher • L. R. Ranganath

Received: 02 September 2017 / Revised: 23 October 2017 / Accepted: 27 October 2017 / Published online: 17 November 2017 # Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017

Abstract Background: One of the major metabolic consequences of using nitisinone to treat patients with alkaptonuria is that circulating tyrosine concentrations increase. As tyrosine is required for the biosynthesis of catecholamine neurotransmitters, it is possible that their metabolism is altered as a consequence. Herein we report the 24-h urinary excretion of normetadrenaline (NMA), metadrenaline (MA), 3-methoxytyramine (3-MT) (catecholamine metabolites) and 5-hydroxyindole acetic acid (5-HIAA, metabolite of serotonin) in a cohort of AKU patients before and after a 4week treatment trial with nitisinone. Materials and Methods: 24 h urinary excretions of NMA, MA, 3-MT and 5-HIAA were determined by liquid chromatography tandem mass spectrometry. Interassay coefficient of variation was 60 mL/min/1.73 m2 in all cases). Completeness of 24-h urine collection was assessed by measurement of urine creatinine (Roche Diagnostics, Germany); all patients had urine creatinine concentrations within the normal reference range (9.0–18.0 mmol/24 h, in-house reference range). Analytical Methods Urine Metadrenalines The concentrations of urinary NMA, MA and 3-MT were determined by liquid chromatography tandem mass spectrometry (Banks et al. 2014). 1 mL of urine underwent acid hydrolysis (5M-HCl) at 100 C for 30 min. 50 mL of hydrolysate was diluted in 2 mL of deionised water containing deuterated internal standards (D 3 -NMA, 0.11 mmol/L, D 3 -MA 0.10 mmol/L and D 4 -3-MT 0.12 mmol/L. CDN Isotopes, Essex) and loaded onto the solid phase extraction plate (30 mg Evolute-SCX, Biotage, Hengoed). 20 mL of extract was injected onto a C18 phenylhexyl column (2.6 m, 4.6  100 mm, Phenomenex, Cheshire) using a Waters Acquity UPLC separations module coupled to a Xevo TQS tandem mass spectrometer. Initial conditions of 90:10 water/methanol with 0.1% formic acid (v/v) increased linearly to 40:60 over 2 min, returning to starting conditions by 4 min. In-house calibration standards and commercial quality controls materials (Recipe ClinChek, Germany) were used. Calibrator concentrations were 0–46.8 mmol/L for NMA, 0–24.8 mmol/L for MA and 0–27.7 mmol/L for 3-MT. Interassay coefficients of variation for NMA, MA and 3-MT were 4.6, 4.7 and 7.2% at 1.7, 0.8 and 1.6 mmol/L, respectively. Urine 5-Hydroxyindole Acetic Acid The concentration of urinary 5-HIAA was determined by liquid chromatography tandem mass spectrometry. Samples were diluted (20 mL urine in 2 mL) in deionised water containing a deuterated internal standard (D5-5-hydroxyindole acetic acid, 0.34 mmol/L, CDN Isotopes, Essex). 20 mL of the diluted urine sample was injected onto an Atlantis dC18 column (2.6 m, 4.6  100 mm, Waters, Milford) using a Waters Alliance 2795 separations module coupled to a Waters Quattro Premier XE tandem mass spectrometer. Initial conditions of 95:5 water/methanol with 0.1% formic acid (v/v) and 2 mmol/L ammonium acetate increased linearly to 5:95 over 2 min, returning to starting conditions by 4 min.

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Fig. 2 Urinary metadrenaline concentrations in patients with alkaptonuria

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before treatment with nitisinone and after no treatment (n ¼ 7);

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Commercial calibration standards (3.6–356 mmol/L, Chromsystems, Germany) and quality controls materials (Recipe ClinChek, Germany) were used. Interassay coefficient of variation was 7.2% for 5-HIAA at 26.2 mmol/L. Serum Tyrosine and Phenylalanine The concentrations of serum tyrosine and phenylalanine were determined by liquid chromatography tandem mass spectrometry; for details see Hughes et al. (2015). Tyrosine concentration was previously reported in the SONIA-1 clinical trial (Ranganath et al. 2016). In this study data from only 36 of 40 subjects from the SONIA-1 clinical were included. Serum tyrosine and phenylalanine concentrations presented herein are from subjects that had urine samples analysed for urinary NMA, MA, 3-MT and 5-HIAA. All serum samples were collected from patients after an overnight fast (at least 8 h). Patients’ dietary intake of protein was not restricted during this study, nor was it monitored. Statistical Analysis All statistical analysis was performed using GraphPad Instat (version 3.10, 2009). Kolmogorov-Smirnov testing was performed to assess if urinary NMA, MA, 3-MT and 5HIAA concentrations and serum tyrosine and phenylalanine concentrations were normally distributed. Unpaired twotailed student t-test was used to assess significant differences in urinary metabolites pre- and post-treatment with nitisinone; a p value