TY - CHAP M1 - Book, Section TI - Batten Diseases and Lipidoses A1 - Clark, Gary D. A2 - Kline, Mark W. Y1 - 2018 N1 - T2 - Rudolph's Pediatrics, 23e AB - Disorders of lysosomes result from a lack of enzymes or critical proteins involved in lysosomal function. The lysosomes act as the recycle and incinerator systems of our cells. The lack of an enzyme or critical protein can lead to disturbed cellular function resulting from accumulation of substrate (cellular garbage or accumulation of aberrant protein) or from altered cellular metabolism. These usually lead to cell death, but the timing differs depending on the disease. The Batten diseases, neuronal ceroid lipofuscinoses, are perhaps the most extreme of these disorders leading to early cell death and degeneration of the central nervous system (CNS). The fact that the CNS is predominately affected by these disorders probably reflects the lack of regenerative capability in this organ. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182924394 ER -