Late-onset presentation of pyruvate dehydrogenase deficiency

Movement Disorders

Volumn 19, Issue 6, 2004, Pages 727-729

  Mellick, George ^a   Price, Lee ^a   Boyle, Richard ^a  

^a PRINCESS ALEXANDRA HOSPITAL   (Australia)

Author keywords

Movement disorder; Pyruvate dehydrogenase; Pyruvate dehydrogenase deficiency

Indexed keywords

LEVODOPA; PYRUVATE DEHYDROGENASE; THIAMINE;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CHROMOSOME BAND; CLINICAL FEATURE; DYSARTHRIA; ENZYME ASSAY; HUMAN; HUMAN CELL; KETOGENIC DIET; MALE; MOTOR DYSFUNCTION; NEUROIMAGING; ONSET AGE; PARKINSONISM; PRIORITY JOURNAL; PUTAMEN; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SKIN FIBROBLAST;

AGE FACTORS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOVEMENT DISORDERS; POLYMERASE CHAIN REACTION; PUTAMEN; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 4444281032     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20063     Document Type: Article

References (4)

1. Brown GK, Otero LJ, LeGris M, et al. Pyruvate dehydrogenase deficiency. Med Genet 1994;31:875-879.
2. Bindoff LA, Birch-Machin MA, Farnsworth L, et al. Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex. J Neurol Sci 1989;93:311-318.
3. Lissens W, De Meirlier L, Seneca S, et al. Mutations in the x-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 2000;15:209-219.
4. Brown GK. Defects of pyruvate dehydrogenase and intermediary metabolism. In: Schapira AHV, Di Mauro S, editors. Mitochondrial disorders in neurology 2. Philadelphia, PA: Butterworth Heinemann; 2002. p 229-256.