Relapsing rhabdomyolysis due to peroxisomal α-methylacyl-COA racemase deficiency

Neurology

Volumn 75, Issue 14, 2010, Pages 1300-1302

  Kapina, V ^a   Sedel, F ^b   Truffert, A ^a   Horvath, J ^a   Wanders, R J A ^c   Waterham, H R ^c   Picard, F ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; CATALASE; CHOLINE; CREATINE KINASE; ALPHA-METHYLACYL-COA RACEMASE; FATTY ACID; ISOMERASE; PRISTANIC ACID;

ADULT; APHASIA; ARTICLE; BRAIN BIOPSY; BRAIN EDEMA; CASE REPORT; CEREBRAL PEDUNCLE; CLINICAL ASSESSMENT; COMPLEX PARTIAL SEIZURE; CONFUSION; DIET RESTRICTION; ELECTRONEUROGRAPHY; ELECTRORETINOGRAM; FEVER; FLU LIKE SYNDROME; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HEADACHE; HEMIANOPIA; HEMIPARESIS; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; MALE; MICROGLIA; MUSCLE WEAKNESS; MYALGIA; NEUROLEPTIC MALIGNANT SYNDROME; NEUTRON ACTIVATION ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PONS; PRIORITY JOURNAL; REFLEX DISORDER; RELAPSE; RETINOPATHY; RHABDOMYOLYSIS; SCHIZOPHRENIA; SENSORY DYSFUNCTION; SKIN FIBROBLAST; SPECTROSCOPY; THALAMUS; VISUAL ACUITY; BLOOD; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYMOLOGY; PHYSIOLOGY;

ADULT; FATTY ACIDS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PEROXISOMAL DISORDERS; RACEMASES AND EPIMERASES; RHABDOMYOLYSIS; SCHIZOPHRENIA; VISUAL ACUITY;

EID: 77958158663     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f612a5     Document Type: Article

References (6)

1. Thompson SA, Calvin J, Hogg S, Ferdinandusse S, Wanders RJ, Barker RA. Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. J Neurol Neurosurg Psychiatry 2008;79:448-450.
2. Ferdinandusse S, Denis S, Clayton PT, et al. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 2000;24:188-191.
3. McLean BN, Allen J, Ferdinandusse S, Wanders RJ. A new defect of peroxisomal function involving pristanic acid: a case report. J Neurol Neurosurg Psychiatry 2002;72:396-399.
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