LT should be carefully considered in patients with GSD type IIIa as muscle weakness and cardiomyopathy can be slowly progressive and will not be reversed by LT and may progress despite LT.[294] GSD IV (glycogen brancher

deficiency) is a systemic, yet heterogeneous disorder resulting in accumulation of insoluble amylopectin-like polyglucosan in the liver heart, muscle, nervous system, and skin.[295] The most common form in children appears to be predominantly hepatic with relatively rapid progression to cirrhosis and liver failure, with death by 5 years of age. Similar to GSD III, HCC can occur. The majority of reported cases of LT for GSD IV suggest a favorable outcome.[294, 296, 297] However, systemic progression of amylopectin-like deposits in the heart and muscle find more can occur post-LT resulting in cardiac and neuromuscular dysfunction and, in some cases, death. GSD type III and type IV may be associated with hepatocellular Imatinib cell line carcinoma or hepatic failure.[6, 298] LT for GSD serves to replace the enzyme deficiency in the liver and significantly improve metabolic control. Long-term survival following LT for GSD I, III, and IV appears to be better than a comparable control population who received an LT for conditions other than GSD.[289] However, this study was not able to assess the impact or development of extrahepatic morbidities such as cardiomyopathy, myopathy, infectious complications,

or inflammatory bowel disease. 66. LT evaluation

should be considered for patients with: GSD I with poor metabolic control, multiple hepatic adenomas, and/or concern for HCC (1-B); GSD III and IV with poor metabolic control, complications of cirrhosis, progressive hepatic failure, and/or suspected liver malignancy. (1-B) 67. Disease-specific counseling for post-LT expectations should include, for: GSD Ia and Ib: heightened 上海皓元 risk of renal complications; GSD 1b: development of inflammatory bowel disease; GSD IIIa and GSD IV: development of neuromuscular and cardiac complications; GSD I, III, IV: identification of HCC in explanted liver and risk of recurrence if it is present. (2-B) Fatty acid β-oxidation is a key metabolic pathway for the maintenance of energy homeostasis for high energy requiring organs such as the heart and skeletal muscle, and provides the main energy supply during prolonged fasting.[299] Fatty acid oxidation defects (FAOD) are inherited metabolic diseases with serious life-threatening symptoms such as hypoketotic hypoglycemia,[300, 301] acute encephalopathy, cardiomyopathy,[302] rhabdomyolysis,[303] metabolic acidosis, and liver dysfunction.[304] Triggering events include febrile illnesses, vomiting, and fasting can lead to severe complications. Hepatic presentation with hypoketotic hypoglycemia and Reye-like syndrome is usually seen in infancy, but can extend into childhood and adolescence.