JIMD Reports, Volume 17

1. Front Matter

   Pages i-vi

   PDF

2. Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report

   • R. M. K. Stewart, M. C. Briggs, J. C. Jarvis, J. A. Gallagher, L. Ranganath

   Pages 1-6

3. Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment

   • D. Karall, G. Mair, U. Albrecht, K. Niedermayr, T. Karall, W. Schobersberger et al.

   Pages 7-12

4. A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus

   • Alessandra Zanetti, Rosella Tomanin, Angelica Rampazzo, Chiara Rigon, Nicoletta Gasparotto, Matteo Cassina et al.

   Pages 13-21

5. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

   • Guy Helman, Maria Belen Pappa, Phillip L. Pearl

   Pages 23-27

6. Antiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort

   • Andrew Talbot, Joanna R. Ghali, Kathy Nicholls

   Pages 29-36

7. The Complexity of Newborn Screening Follow-Up in Phenylketonuria

   • Leah E. Hecht, Ann E. Wessel, Harvey L. Levy, Gerard T. Berry

   Pages 37-39

8. Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia

   • Britt van Erven, Myrna M. M. Römers, M. Estela Rubio-Gozalbo

   Pages 41-46

9. m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening

   • Mari Mori, John R. Mytinger, Lisa C. Martin, Dennis Bartholomew, Scott Hickey

   Pages 47-51

10. Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

    • Nesrin Karabul, Anika Skudlarek, Janine Berndt, Cornelia Kornblum, Rudolf A. Kley, Stephan Wenninger et al.

    Pages 53-61

11. A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV

    • Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, Burcu Berberoglu-Ates, Yusuf Aydemir, Erdal Sag et al.

    Pages 63-66

12. Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency

    • Annapurna Sudarsanam, Harry Singh, Bridget Wilcken, Michael Stormon, Susan Arbuckle, Bernhard Schmitt et al.

    Pages 67-70

13. Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

    • Dong-Hwan Lee, Wen-Juan Qiu, Jeongho Lee, Yin-Hsiu Chien, Wuh-Liang Hwu

    Pages 71-75

14. Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism

    • Celia Atkinson, Isabelle R. Miousse, David Watkins, David S. Rosenblatt, Julian A. J. Raiman

    Pages 77-81

15. Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

    • L. van der Tol, David Cassiman, Gunnar Houge, Mirian C. Janssen, Robin H Lachmann, Gabor E Linthorst et al.

    Pages 83-90

16. Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III

    • Alessandra Brambilla, Savina Mannarino, Roberta Pretese, Serena Gasperini, Cinzia Galimberti, Rossella Parini

    Pages 91-95

17. Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

    • Guy Helman, Maria Belen Pappa, Phillip L. Pearl

    Pages 97-97

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 biochemical features of a Mendelian disorder.

• Mendelian disorder
• endocrinology
• inherited metabolic diseases
• medical genetics
• pediatrics
• metabolic disease

• Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

  Johannes Zschocke

• WSU Division of Health Sciences Clinical Pharmacology Unit, Spokane, USA

  K. Michael Gibson

• Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

  Garry Brown

• Tulane University Medical School, New Orleans, USA

  Eva Morava

• Heidelberg University Hospital Centre for Child & Adolescent Med, Heidelberg, Germany

  Verena Peters

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