Muscle carnitine deficiency: Adult onset lipid storage myopathy with sensory neuropathy

Neurological Sciences

Volumn 31, Issue 1, 2010, Pages 61-64

  Zhang, Wei ^a,b   Miao, Jianting ^a   Zhang, Guangyun ^b   Liu, Rui ^a   Zhang, Dawei ^b   Wan, Qun ^b   Yu, Yingxin ^b   Zhao, Gang ^b   Li, Zhuyi ^a  

^a FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^b FOURTH MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Lipid storage myopathy; Muscle carnitine deficiency; Neuropathy

Indexed keywords

ASPARTATE AMINOTRANSFERASE; CARNITINE; CREATINE KINASE; HYDROXYBUTYRATE DEHYDROGENASE; LACTATE DEHYDROGENASE;

ABNORMAL LABORATORY RESULT; ADULT; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CARNITINE DEFICIENCY; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DIET RESTRICTION; DISEASE SEVERITY; HUMAN; LACTATE DEHYDROGENASE BLOOD LEVEL; LIPIDOSIS; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYALGIA; MYOPATHY; NERVE BIOPSY; NERVE CONDUCTION DISORDER; NEUROLOGIC EXAMINATION; ONSET AGE; PARESTHESIA; PERIPHERAL NEUROPATHY; SENSORY DYSFUNCTION; SENSORY NERVE CONDUCTION; SENSORY NEUROPATHY; SENSORY SYSTEM ELECTROPHYSIOLOGY;

ADULT; CARNITINE; CHINA; HUMANS; LIPID METABOLISM DISORDERS; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; SENSATION DISORDERS; SURAL NERVE; TREATMENT OUTCOME; VITAMIN B COMPLEX; VITAMIN B DEFICIENCY;

EID: 76449089722     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-009-0128-5     Document Type: Article

References (12)

1. SE Olpin 2005 Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults Clin Lab 51 289 306
2. VA Cwik 2000 Disorders of lipid metabolism in skeletal muscle Neurol Clin 18 167 184
3. N Siliprandi L Sartorelli M Ciman, et al. 1989 Carnitine: metabolism and clinical chemistry Clin Chim Acta 183 3 11
4. L Vergani C Angelini 1999 Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro Neuromuscul Disord 9 320 322
5. G Karpati S Carpenter AG Engel, et al. 1975 The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features Neurology 25 16 24
6. AG Engel C Angelini 1973 Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome Science 179 899 902
7. CA Stanley S DeLeeuw PM Coates, et al. 1991 Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake Ann Neurol 30 709 716
8. G Boudin J Mikol A Guillard, et al. 1976 Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney J Neurol Sci 30 313 325
9. PR Chapoy C Angelini WJ Brown, et al. 1980 Systemic carnitine deficiency-a treatable inherited lipid-storage disease presenting as Reye's syndrome N Engl J Med 303 1389 1394 (Pubitemid 11197527)
10. WR Markesbery MP McQuillen PG Procopis, et al. 1974 Muscle carnitine deficiency: association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes Arch Neurol 31 320 324
11. F Cornelio D Peluchetti M Rimoldi, et al. 1981 Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study Acta Neuropathol Suppl 7 226 229
12. N Makhseed HD Vallance M Potter, et al. 2004 Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy J Inherit Metab Dis 27 778 780