Tonin P, Lewis P, Servidei S, DiMauro S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY.
Ann Neurol. 1990 Feb;27(2):181-5. doi: 10.1002/ana.410270214.
To evaluate the proportion of cases of myoglobinuria that can be ascribed to specific metabolic defects, we have studied eight enzymes--phosphorylase, phosphorylase kinase, phosphofructokinase (PFK), phosphoglycerate kinase (PGK), phosphoglycerate mutase (PGAM), lactate dehydrogenase (LDH), carnitine palmitoyltransferase (CPT), and myoadenylate deaminase (MAD)--in muscle biopsy specimens from 77 consecutive patients with myoglobinuria (documented in 44, suspected in 33). Enzyme defects were found in 36 patients: CPT deficiency in 17, phosphorylase deficiency in 10, phosphorylase kinase deficiency in 4, MAD deficiency in 3, PGK deficiency in 1, and a combined defect of CPT and MAD in 1. Exercise was the main precipitating factor, both in patients with and in those without detectable enzymopathies. Thirty patients had specific enzymopathies without myoglobinuria: 14 had phosphorylase deficiency, 9 had MAD deficiency, 3 had phosphorylase kinase deficiency, 3 had PFK deficiency, and 1 had PGAM deficiency. Systematic biochemical evaluation of muscle biopsy specimens revealed specific enzymopathies in about half of the patients with idiopathic myoglobinuria. The rest may have blocks of metabolic pathways not yet studied routinely, such as beta oxidation, or genetic defects of the sarcolemma, such as Becker's muscular dystrophy.
为了评估可归因于特定代谢缺陷的肌红蛋白尿病例的比例，我们研究了来自77例连续肌红蛋白尿患者（44例确诊，33例疑似）肌肉活检标本中的八种酶——磷酸化酶、磷酸化酶激酶、磷酸果糖激酶（PFK）、磷酸甘油酸激酶（PGK）、磷酸甘油酸变位酶（PGAM）、乳酸脱氢酶（LDH）、肉碱棕榈酰转移酶（CPT）和肌腺苷酸脱氨酶（MAD）。在36例患者中发现了酶缺陷：17例CPT缺乏，10例磷酸化酶缺乏，4例磷酸化酶激酶缺乏，3例MAD缺乏，1例PGK缺乏，1例CPT和MAD联合缺陷。运动是主要的诱发因素，无论有无可检测到的酶病患者均如此。30例患者有特定酶病但无肌红蛋白尿：14例磷酸化酶缺乏，9例MAD缺乏，3例磷酸化酶激酶缺乏，3例PFK缺乏，1例PGAM缺乏。对肌肉活检标本进行系统的生化评估发现，约一半特发性肌红蛋白尿患者存在特定酶病。其余患者可能存在尚未常规研究的代谢途径阻断，如β氧化，或肌膜的遗传缺陷，如贝克尔肌营养不良症。
