Table of Contents

JIMD Reports -Case and Research Reports, 2011/3; Contents; Liver Failure with Coagulopathy, Hyperammonemia and Cyclic Vomiting in a Toddler Revealed to Have Combined Heterozygosity for Genes Involved with Ornithine Transcarbamylase Deficiency and Wilson Disease; Abstract; Introduction; Case Report; Discussion; One Sentence Take-Home Message; References; Large Mitochondrial DNA Deletion in an Infant with Addison Disease; Abstract; Introduction; Methods; Clinical Case; Molecular Studies; Results; Molecular Studies; Discussion; References Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) DeficiencyDetected Through Newborn Screening in DenmarkAbstract; Introduction; Clinical Case History; Molecular Genetic Findings; Discussion; Synopsis; References; Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency; Abstract; Introduction; Materials and Methods; Results; Discussion; Conclusion; Synopsis; References Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase DeficiencyAbstract; Introduction; Patient and Methods; Biochemical Analysis; Molecular Analysis of the DDC Gene; Computer Analysis; Case History; Results; CSF Neurotransmitters Analysis; AADC Enzyme Activity and Kinetic Parameters; DDC Gene Analysis; In Silico Analysis of the AADC Dimer 3D-Structure; Drug Therapy; Discussion; References; Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience; Abstract; Introduction; Methods; Questionnaire Serial Assessment of Disease Burden and Quality of LifeResults; Questionnaire; Self-Reported Energy Levels; Impact on Symptoms of Sweating, Heat and Cold Tolerance, Pain, Diarrhea and Abdominal Pain and Differences in Wellbeing After Each Infusion; Attitude to Changing ERT to Agalsidase Alfa; Self-Report of Infusion Reactions; Disease Burden and Quality of Life; Disease Burden; Quality of Life; Plasma GL3; Discussion; Synopsis; Declarations; Disclaimer; References; Miglustat Treatment May Reduce Cerebrospinal Fluid Levels of the Axonal Degeneration Marker Tau in Niemann-Pick Type C; Abstract IntroductionMethods; Standard Protocol Approvals and Patient Consent; Subjects; Variables; CSF Sampling; CSF Biomarkers of Amyloid Metabolism and Neuronal Cell Damage; Statistics; Results; Group Characteristics; Longitudinal Change in T-Tau; P-Tau; Amyloid Markers; Discussion; NPC and Amyloid Metabolism; Limitations of the Study; Future Prospects of Biomarkers in NPC; Conclusions; Synopsis; Disclosures; Author Contributions; References; A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease; Abstract; Introduction Material and Methods 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.