Fumarate Hydratase Deficiency in Monozygotic Twins

Pediatric Neurology

Volumn 35, Issue 2, 2006, Pages 150-153

  Phillips, Tonya M ^a   Gibson, James B ^a   Ellison, Dale A ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FEMALE; FUMARATE HYDRATASE DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; MONOZYGOTIC TWINS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TONIC CLONIC SEIZURE;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; DISEASES IN TWINS; FEMALE; FUMARATE HYDRATASE; HUMANS; INFANT; MUTATION; TWINS, MONOZYGOTIC;

EID: 33746192510     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2006.02.005     Document Type: Article

References (11)

1. Kerrigan J.F., Aleck K.A., Tarby T.J., Bird C.R., and Heidenreich R.A. Fumaric aciduria. Clinical and imaging features. Ann Neurol 47 (2000) 583-588
2. Gellera C., Uziel G., Rimoldi M., et al. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology 40 (1990) 495-499
3. Zeman J., Krijt J., Stratilova L., et al. Abnormalities in succinylpurines in fumarase deficiency. Possible role in pathogenesis of CNS impairment. J Inherit Metab Dis 23 (2000) 371-374
4. Toro J.R., Nickerson M.L., Ming-Hui W., et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73 (2003) 95-106
5. Zinn A.B., Kerr D.S., and Hoppel C.L. Fumarase deficiency. A new cause of mitochondrial encephalomyopathy. N Engl J Med 315 (1986) 469-475
6. Narayanan V., Diven W., and Ahdab-Barmada M. Congenital fumarase deficiency presenting with hypotonia and areflexia. J Child Neurol 11 (1996) 252-255
7. Gupta K., Johnson D., Olpin S., Gray R.G.F., Preece M.A., and Chakrapani A. Mild phenotype of fumarase deficiency. J Inherit Metab Dis 26 Suppl. 2 (2003) 112
8. Remes A.M., Rantala H., Hiltenen J.K., Leisti J., and Ruokonen A. Fumarase deficiency. Two siblings with enlarged cerebral ventricles and polyhydramnios in utero. Pediatrics 89 (1992) 730-734
9. Kimonis V.E., Shih K., Mandell R., and Shih V. Clinical, radiological and molecular studies in a girl with fumarase deficiency. J Inherit Metab Dis 23 (2000) 112
10. de Baulny Ogier H., and Saudubray J.M. Branched-chain organic acidurias. In: Fernandes J., Saudubray J.M., and van den Berghe G. (Eds). Inborn metabolic disease. Diagnosis and treatment (2000), Springer, Berlin, Heidelberg 199-200
11. Pollard P.J., Briere J.J., Alam N.A., et al. Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations. Hum Molec Genet 14 (2005) 2231-2239