Stepien Karolina M, Schmidt Wolfgang M, Bittner Reginald E, O'Toole Orna, McNamara Brian, Treacy Eileen P
Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Salford Royal NHS Foundation Trust Salford United Kingdom.
Neuromuscular Research Department Center for Anatomy and Cell Biology, Medical University of Vienna Vienna Austria.
JIMD Rep. 2019 Mar 14;46(1):4-10. doi: 10.1002/jmd2.12016. eCollection 2019 Mar.
Lipin-1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. The defect has only recently been recognized so little is known about the long-term outcome in adult patients with this disorder. We report the course and outcome of a 25-year-old female patient with lipin-1 deficiency after a recent episode of rhabdomyolysis requiring intensive care admission with a peak creatine kinase of 500 000 IU/L. One-year post discharge from intensive care, the patient has residual drop foot bilaterally consistent with bilateral common peroneal neuropathies in addition to a background residual distal myopathy.
脂联素-1是一种磷脂酸磷酸水解酶（EC 3.1.3.4），可催化磷脂酸去磷酸化生成二酰基甘油和无机磷酸。该酶缺乏会导致由感染引发的潜在致命性严重复发性横纹肌溶解症。这种缺陷直到最近才被认识到，因此对于患有这种疾病的成年患者的长期预后知之甚少。我们报告了一名25岁脂联素-1缺乏女性患者在最近一次横纹肌溶解症发作后的病程和结局，此次发作需要重症监护入院，肌酸激酶峰值达500000 IU/L。从重症监护病房出院一年后，该患者除了存在背景性残留远端肌病外，双侧还残留足下垂，与双侧腓总神经病变一致。
