JIMD Reports, Volume 27

1. Front Matter

   Pages i-vi

   PDF

2. Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion

   • Ghadi Antoun, Skye McBride, Jason R. Vanstone, Turaya Naas, Jean Michaud, Stephanie Redpath et al.

   Pages 1-9

3. Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

   • P. Bala, S. Ferdinandusse, S. E. Olpin, P. Chetcuti, A. A. M. Morris

   Pages 11-15

4. Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

   • Paula Fernandez-Guerra, M. Lund, T. J. Corydon, N. Cornelius, N. Gregersen, J. Palmfeldt et al.

   Pages 17-26

5. SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

   • Roeltje R. Maas, Adela Della Marina, Arjan P. M. de Brouwer, Ron A. Wevers, Richard J Rodenburg, Saskia B. Wortmann

   Pages 27-32

6. Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

   • Jerold Jeyaratnam, Nienke M. ter Haar, Monique G. M. de Sain-van der Velden, Hans R. Waterham, Mariëlle E. van Gijn, Joost Frenkel

   Pages 33-38

7. Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles

   • Clément Pontoizeau, Florence Habarou, Anaïs Brassier, Alice Veauville-Merllié, Coraline Grisel, Jean-Baptiste Arnoux et al.

   Pages 39-45

8. IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

   • Henning Stockmann, Karen P. Coss, M. Estela Rubio-Gozalbo, Ina Knerr, Maria Fitzgibbon, Ashwini Maratha et al.

   Pages 47-53

9. Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency

   • Julie Chantreuil, Géraldine Favrais, Nadine Fakhri, Marine Tardieu, Nicolas Roullet-Renoleau, Thierry Perez et al.

   Pages 55-62

10. No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

    • Dorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, Sylwia Łuczak, Katarzyna Iwanicka-Pronicka, Stephanie Siegmund et al.

    Pages 63-68

11. Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice

    • Priscila Nicolao Mazzola, Vibeke Bruinenberg, Karen Anjema, Danique van Vliet, Carlos Severo Dutra-Filho, Francjan J. van Spronsen et al.

    Pages 69-77

12. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B₆

    • Emma S. Reid, Hywel Williams, Polona Le Quesne Stabej, Chela James, Louise Ocaka, Chiara Bacchelli et al.

    Pages 79-84

13. The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

    • S. Sirrs, C. Hollak, M. Merkel, A. Sechi, E. Glamuzina, M. C. Janssen et al.

    Pages 85-91

14. Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

    • Agata Fiumara, Rita Barone, Giuliana Del Campo, Pasquale Striano, Jaak Jaeken

    Pages 93-99

15. The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

    • Eugene Diekman, Monique de Sain-van der Velden, Hans Waterham, Leo Kluijtmans, Peter Schielen, Evert Ben van Veen et al.

    Pages 101-106

16. Further Delineation of the ALG9-CDG Phenotype

    • Sarah AlSubhi, Amal AlHashem, Anas AlAzami, Kalthoum Tlili, Saad AlShahwan, Dirk Lefeber et al.

    Pages 107-112

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.

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

• Tulane University Medical School, New Orleans, USA

  Eva Morava

• Division of Metabolism and Children’s Re, University Children's Hospital Zurich, Zurich, Switzerland

  Matthias Baumgartner

• Division of Child and Adolescent Neurolo, Mayo Clinic, Rochester, USA

  Marc Patterson

• Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

  Shamima Rahman

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

  Johannes Zschocke

• Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

  Verena Peters

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