JIMD Reports, Volume 40

1. Front Matter

   Pages i-vi

   PDF

2. Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan

   • Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hsin Li

   Pages 1-6

3. Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion

   • Andrew White, Michel C. Tchan

   Pages 7-9

4. ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation

   • Wienke H. Galama, Sandra L. J. Verhaagen – van den Akker, Dirk J. Lefeber, Ilse Feenstra, Aad Verrips

   Pages 11-16

5. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

   • Farrah Rajabi, Lance H. Rodan, Maureen M. Jonas, Janet S. Soul, Nicole J. Ullrich, Ann Wessel et al.

   Pages 17-22

6. The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria

   • Bozena Didycz, Magdalena Nitecka, Miroslaw Bik-Multanowski

   Pages 23-29

7. Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria

   • M. Khedr, S. Judd, M. C. Briggs, A. T. Hughes, A. M. Milan, R. M. K. Stewart et al.

   Pages 31-37

8. Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening

   • Hardo Lilleväli, Karit Reinson, Kai Muru, Kristi Simenson, Ülle Murumets, Tõnu Möls et al.

   Pages 39-45

9. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency

   • Abdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, Ali Alasmari, Fuad Al Mutairi, Abdulrahman Alswaid et al.

   Pages 47-53

10. Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers

    • I. Castro-Ferreira, Rute Carmo, Sérgio Estrela Silva, Otília Corrêa, Susana Fernandes, Susana Sampaio et al.

    Pages 55-62

11. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

    • Erin Conboy, Filippo Vairo, Matthew Schultz, Katherine Agre, Ross Ridsdale, David Deyle et al.

    Pages 63-69

12. Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria

    • S. Doyle, M. O’Regan, C. Stenson, J. Bracken, U. Hendroff, A. Agasarova et al.

    Pages 71-76

13. Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet

    • B. Ryder, F. Moore, A. Mitchell, S. Thompson, J. Christodoulou, S. Balasubramaniam

    Pages 77-83

14. Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

    • Bimal Patel, Surekha Pendyal, Priya S. Kishnani, Marie McDonald, Lauren Bailey

    Pages 85-90

15. Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation

    • C. Bursle, R. Weintraub, C. Ward, R. Justo, J. Cardinal, D. Coman

    Pages 91-95

16. Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC

    • Helen Walker, Mervi Pitkanen, Yusof Rahman, Sally F. Barrington

    Pages 97-103

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 & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

  Matthias Baumgartner

• Division of Child and Adolescent Neurology, 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

Policies and ethics