Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Storage Diseases
- Chapter 59 Lysosomal Disorders
- Chapter 60 Peroxisomal Disorders
- Kernicterus
- Mitochondrial Diseases
- Maternal Toxin Exposure
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Chapter 60 - Peroxisomal Disorders
from Storage Diseases
Published online by Cambridge University Press: 07 August 2021
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Storage Diseases
- Chapter 59 Lysosomal Disorders
- Chapter 60 Peroxisomal Disorders
- Kernicterus
- Mitochondrial Diseases
- Maternal Toxin Exposure
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Summary
Peroxisomal disorders are a diverse group of hereditary metabolic diseases that occur as a result of partial or total malfunction of peroxisomes. Peroxisomes are cell organelles that consist of a protein-rich matrix surrounded by a single membrane. They were discovered by Belgian biochemist Christian de Duve in 1965, ten years after he discovered lysosomes. Peroxisomes contain about 50 different matrix enzymes that are essential for various anabolic and catabolic processes. In contrast to lysosomes, which are rich in enzymes that require an acidic environment, peroxisomal enzymes are most efficient in the oxidative surrounding [1, 2]. Peroxisomes are present in the majority of human cells, except in erythrocytes. Depending on the tissue type, their number in a human cell varies from about 100 to 1,000. The largest numbers may be found in hepatocytes and kidney tubular cells, where peroxisomes are involved in the synthesis of bile acids and in detoxification processes (Figure 60.1).
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- Perinatal Neuropathology , pp. 378 - 384Publisher: Cambridge University PressPrint publication year: 2021