JIMD Reports - Case and Research Reports, 2011/3

Front Matter....Pages i-vii
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....Pages 1-3
Large Mitochondrial DNA Deletion in an Infant with Addison Disease....Pages 5-9
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark....Pages 11-15
Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency....Pages 17-23
Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency....Pages 25-32
Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience....Pages 33-43
Miglustat Treatment May Reduce Cerebrospinal Fluid Levels of the Axonal Degeneration Marker Tau in Niemann–Pick Type C....Pages 45-52
A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease....Pages 53-57
Differential Expression of Matrix Metalloproteinases in the Serum of Patients with Mucopolysaccharidoses....Pages 59-66
COG5-CDG with a Mild Neurohepatic Presentation....Pages 67-70
Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations....Pages 71-77
Levodopa Response Reveals Sepiapterin Reductase Deficiency in a Female Heterozygote with Adrenoleukodystrophy....Pages 79-82
Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation....Pages 83-89
Hyperoxaluria and Rapid Development of Renal Failure Following a Combined Liver and Kidney Transplantation: Emphasis on Sequential Transplantation....Pages 91-95
Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications....Pages 97-102
Cerebral Edema in Maple Syrup Urine Disease Despite Newborn Screening Diagnosis and Early Initiation of Treatment....Pages 103-106
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 ....Pages 107-115
Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome....Pages 117-124
Molecular Genetic Characterization of Novel Sphingomyelin Phosphodiesterase 1 Mutations Causing Niemann–Pick Disease....Pages 125-129
Dietary Protein Counting as an Alternative Way of Maintaining Metabolic Control in Phenylketonuria....Pages 131-139