ABSTRACT
This chapter describes the theranostic significance of CP in IEM, congenital neurological CP disorders, and the role of CP/ATG in inherited metabolic and endocrine myopathies. It presents the update on lysosomal and ER-Ca with a focus on ATG defects in LSDs, CP and nucleophagy involving CBMP in congenital muscular dystrophies, defective proteolysis in neuronal ceroid lipofuscinosis, and rectification of ERT with r-Cathepsin-D. Numerous mechanisms have been proposed to explain biochemical and clinico-pathological features of inborn errors of metabolism, including the CP/ATG pathway, representing genetic defects leading to multisystem diseases with predominantly CNS, cardiovascular, and musculoskeletal involvement. Wilson disease is an inherited disorder of Cu metabolism that accumulates in the liver and brain causing hepato-lenticular degenerations, with a statue-like appearance. Abnormal intracellular trafficking, changes in ER shaping and defects affecting lipid metabolism, lysosomal physiology, CP/ATG, myelination, and neuronal development have been proposed as mechanisms.
