Tein I
Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.
Semin Pediatr Neurol. 1996 Jun;3(2):59-98. doi: 10.1016/s1071-9091(96)80038-6.
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies among the fatty acid oxidation (FAO) defects; and mitochondrial enzyme deficiencies) or (2) acute, recurrent, reversible muscle dysfunction with exercise intolerance and acute muscle breakdown or myoglobinuria (with or without cramps) (eg, phosphorylase (PPL), phosphorylase b kinase (PBK), phosphofructokinase (PFK), phosphoglycerate kinase (PGK), phosphoglycerate mutase (PGAM), and lactate dehydrogenase (LDH) among the glycogenoses and carnitine palmitoyltransferase II (CPT II) deficiency among the disorders of FAO or (3) both (eg, PPL, PBK, PFK among the glycogenoses; LCAD, VLCAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD), and trifunctional enzyme deficiencies among the FAO defects; and multiple mitochondrial DNA (mtDNA) deletions). Myoadenylate deaminase deficiency, a purine nucleotide cycle defect, is somewhat controversial and is characterized by exercise-related cramps leading rarely to myoglobinuria.
糖原、脂质或线粒体代谢紊乱可能导致两种主要临床综合征，即：(1)进行性肌无力（例如，糖原贮积症中的酸性麦芽糖酶、脱支酶和分支酶缺乏；脂肪酸氧化（FAO）缺陷中的长链和极长链酰基辅酶A脱氢酶（LCAD、VLCAD）以及三功能酶缺乏；以及线粒体酶缺乏）或(2)急性、复发性、可逆性肌肉功能障碍，伴有运动不耐受和急性肌肉分解或肌红蛋白尿（有或无痉挛）（例如，糖原贮积症中的磷酸化酶（PPL）、磷酸化酶b激酶（PBK）、磷酸果糖激酶（PFK）、磷酸甘油酸激酶（PGK）、磷酸甘油酸变位酶（PGAM）和乳酸脱氢酶（LDH），以及FAO疾病中的肉碱棕榈酰转移酶II（CPT II）缺乏）或(3)两者皆有（例如，糖原贮积症中的PPL、PBK、PFK；FAO缺陷中的LCAD、VLCAD、短链L-3-羟酰基辅酶A脱氢酶（SCHAD）和三功能酶缺乏；以及多个线粒体DNA（mtDNA）缺失）。肌腺苷酸脱氨酶缺乏是一种嘌呤核苷酸循环缺陷，存在一定争议，其特征是与运动相关的痉挛，很少导致肌红蛋白尿。
