12: The Mucopolysaccharidoses
Case history A 6-year-old boy was taken to the doctor to review the skeletal X-rays, requested on the previous consultation. The mother reported that pregnancy and birth were uneventful. The…
21: Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier
2 Department of Paediatrics, University of Padova, Padova, Italy Introduction Of the 50 or more described lysosomal storage diseases (LSDs) the majority are neuronopathic and associated with profound neurodegeneration. The…
16: Multiple Enzyme Deficiencies
2 Department of Biochemistry, Children’s Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany 16.2 Multiple Sulfatase Deficiency Graciana Diez-Roux and Andrea Ballabio Telethon Institute of Genetics and Medicine , Naples ,…
9: Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy
2 Department of Neurology, Thomas Jefferson University, and Jefferson Medical College, Philadelphia, PA, USA3 Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen, Germany MLD and GLD Metachromatic…
24: The Patient Perspective on Rare Diseases
Related posts: 10: Types A and B Niemann–Pick Disease 18: Neuronal Ceroid Lipofuscinoses 11: Niemann–Pick Disease Type C 23: Newborn, High Risk and Carrier Screening for Lysosomal Storage Disorders 5:…
5: Classification of Lysosomal Storage Diseases
Table 5.1 Classification of lysosomal storage diseases. Related posts: 10: Types A and B Niemann–Pick Disease 18: Neuronal Ceroid Lipofuscinoses 11: Niemann–Pick Disease Type C 23: Newborn, High Risk and…
6: Gaucher Disease
In June 1994, a 20-year-old woman was seen in our clinic with complaints of overt and progressive increase in abdominal girth as well as unremitting fatigue. She had been diagnosed…
23: Newborn, High Risk and Carrier Screening for Lysosomal Storage Disorders
Cases study A A 4 year-old male child was diagnosed with Mucopolysaccharidosis I, Hurler type (MPS-1 H). At the time of diagnosis psychomotor retardation was already present, which deteriorated while…
15: Defect in Protective Protein/Cathepsin A: Galactosialidosis
A case report The following is one of the few clinical cases of early infantile galactosialidosis reported in the literature. A girl was the third child of healthy unrelated parents….
14: Glycoproteinoses
Figure 14.2 A lymphocyte with vacuolated lysosomes from a patient with α-mannosidosis (a), compared to a lymphocyte from a normal control (b). Reproduced from Malm and Nilssen [2] with permission…
