JIMD Reports, Volume 19

1. Front Matter

   Pages i-vi

   PDF

2. A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

   • Thanh-Thanh (Claire) V. Tran, Ying Liu, Michael E. Zwick, Dhanya Ramachandran, David J. Cutler, Xiaoping Huang et al.

   Pages 1-6

3. Refsum Disease Presenting with a Late-Onset Leukodystrophy

   • Flavie Bompaire, Véronique Marcaud, Emmanuelle Le Trionnaire, Frédéric Sedel, Thierry Levade

   Pages 7-10

4. Making the White Matter Matters: Progress in Understanding Canavan’s Disease and Therapeutic Interventions Through Eight Decades

   • Seemin S. Ahmed, Guangping Gao

   Pages 11-22

5. Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease

   • Theresa B. Flanagan, Jill A. Sutton, Laurie M. Brown, David A. Weinstein, Lisa J. Merlo

   Pages 23-29

6. One Year Experience of Pheburane® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency

   • Sema Kalkan Uçar, Burcu Ozbaran, Yasemin Atik Altinok, Melis Kose, Ebru Canda, Mehtap Kagnici et al.

   Pages 31-33

7. Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature

   • Maines Evelina, Morandi Grazia, Olivieri Francesca, Camilot Marta, Cavarzere Paolo, Gaudino Rossella et al.

   Pages 35-41

8. Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

   • Francesca Angileri, Anne Bergeron, Geneviève Morrow, Francine Lettre, George Gray, Tim Hutchin et al.

   Pages 43-58

9. Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis

   • E. J. Bhoj, M. Li, R. Ahrens-Nicklas, L. C. Pyle, J. Wang, V. W. Zhang et al.

   Pages 59-66

10. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening

    • Yin-Hsiu Chien, Jennifer L. Goldstein, Wuh-Liang Hwu, P. Brian Smith, Ni-Chung Lee, Shu-Chuan Chiang et al.

    Pages 67-73

11. Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study

    • Mary Ellen Lynch, Nancy L. Potter, Claire D. Coles, Judith L. Fridovich-Keil

    Pages 75-84

12. Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

    • Sunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, Deepak Sharma, Ratna D. Puri, Udhaya Kotecha et al.

    Pages 85-93

13. Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia

    • Marcus Brecht, Malcolm Richardson, Ajay Taranath, Scott Grist, David Thorburn, Drago Bratkovic

    Pages 95-100

14. Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome

    • Johanna Galvis, Jannet González, Alfredo Uribe, Harvy Velasco

    Pages 101-109

15. Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

    • Pankaj Prasun, Sarah Young, Gajja Salomons, Andrea Werneke, Yong-hui Jiang, Eduard Struys et al.

    Pages 111-115

16. A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly

    • Jun Hwa Lee, André B. P. van Kuilenburg, N. G. G. M. Abeling, Valeria Vasta, Si Houn Hahn

    Pages 117-121

17. Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature

    • Evelina Maines, Grazia Morandi, Francesca Olivieri, Marta Camilot, Paolo Cavarzere, Rossella Gaudino et al.

    Pages 123-123

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

• Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

  Matthias Baumgartner

• Tulane University Medical School, New Orleans, USA

  Eva Morava

• 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

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

  Verena Peters

Policies and ethics