8: The Gangliosidoses
GM1-gangliosidosis (OMIM #230500) The first cousin Brazilian parents of a 7-month-old infant boy reported that he had not made any developmental progress since 3-4 months of age, no longer fixed…
11: Niemann–Pick Disease Type C
2 Department of Neurology, Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA Niemann–Pick disease type C [NPC] (Online Mendelian Inheritance in Man (OMIM)# 257220 – NPC1, OMIM# 607625 –…
2: Clinical Aspects and Clinical Diagnosis
2 Children’s Hospital, University of Mainz, Mainz, Germany Introduction For clinicians managing patients with lysosomal storage disease (LSD), the early years of the 21st century have been characterized by the…
13: Pompe Disease
Case history 1 A full-term female was born after an uneventful pregnancy. She had an abnormally high respiratory rate of 100 per minute during the first day. Her liver was…
18: Neuronal Ceroid Lipofuscinoses
2 Department of Paediatric Neurology, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Batten disease or Neuronal Ceroid Lipofuscinosis (NCLs) is the collective name for a…
10: Types A and B Niemann–Pick Disease
Type A A 3-month-old previously well boy was noted to have hepatosplenomegaly during a routine pediatric visit. Over the next several months, the infant acquired developmental milestones appropriately and learned…
1: The Lysosomal System: Physiology and Pathology
The canonical endocytic pathway progresses along an increasing lumen-acidic gradient from early endosomes retrogradely trafficked from the plasma membrane, to multivesicular bodies or late endosomes, and finally to perinuclear-localized lysosomes….
