title: Muscle carnitine deficiency: adult onset lipid storage myopathy with sensory neuropathy.
abstract: Muscle carnitine deficiency usually results in a lipid storage myopathy, but more rarely, neuropathy occurs in this condition. We report herein a 29-year-old man with muscle carnitine deficiency who developed not only a lipid storage myopathy, but also a severe sensory neuropathy. Oral therapy with levo-carnitine (3 g per day) for 3 months produced a remarkable improvement of the myopathy and sensory neuropathy. Six months later, he remained in good condition under strict dietary control. This report emphasizes that severe neuropathy may occur in some patients with muscle carnitine deficiency, and highlights the need for the neurologist's familiarity with those afflicted to achieve optimal clinical management.
authors.affiliation: Department of Neurology, Tangdu Hospital, Fourth Military Medical University, 710038, Xi'an, Shaanxi, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Jianting
authors.initials: J
authors.lastname: Miao
authors.forename: Guangyun
authors.initials: G
authors.lastname: Zhang
authors.forename: Rui
authors.initials: R
authors.lastname: Liu
authors.forename: Dawei
authors.initials: D
authors.lastname: Zhang
authors.forename: Qun
authors.initials: Q
authors.lastname: Wan
authors.forename: Yingxin
authors.initials: Y
authors.lastname: Yu
authors.forename: Gang
authors.initials: G
authors.lastname: Zhao
authors.forename: Zhuyi
authors.initials: Z
authors.lastname: Li
mesh_terms: D000328:Adult; D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use; D002681:China; D006801:Humans; D052439:Lipid Metabolism Disorders / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D012678:Sensation Disorders / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology / Q000648:ultrastructure; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000627:therapeutic use; D014804:Vitamin B Deficiency / Q000178:diet therapy / Q000473:pathology / Q000503:physiopathology*
chemical_list: D014803:Vitamin B Complex; D002331:Carnitine