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….
Gastrointestinal Disease and Nutrition
Age Changes 1. Impairment of smell and taste can further reduce poor appetite. 2. Older people cannot open their mouths as wide and chew with less power than younger people….
Cardiovascular Disorders
Age Changes 1. Loss of cardiac myocytes secondary to apoptosis, with compensatory hypertrophy of remaining cells. 2. Accumulation of intracellular lipofuscin and extracellular amyloid. 3. Increased intercellular collagen, leading to…
