Fumarase deficiency presenting with periventricular cysts.
A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients.
Loeffen
J
J
Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands. j.loeffen@cukz.umcn.nl
Smeets
R
R
Voit
T
T
Hoffmann
G
G
Smeitink
J
J
D001921:Brain / Q000473:pathology; D003560:Cysts / Q000175:diagnosis*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000378:metabolism; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D005649:Fumarate Hydratase / Q000172:deficiency* / Q000235:genetics; D005650:Fumarates / Q000097:blood / Q000652:urine; D006579:Heterozygote; D006639:Histidine / Q000737:chemistry; D006801:Humans; D007231:Infant, Newborn; D007656:Ketoglutaric Acids / Q000737:chemistry; D007969:Leukomalacia, Periventricular / Q000378:metabolism; D008239:Lysine / Q000737:chemistry; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D008764:Methylmalonic Acid / Q000737:chemistry; D009154:Mutation; D010641:Phenotype; D019289:Pyruvic Acid / Q000737:chemistry; D014463:Ultrasonography
D018076:DNA, Complementary; D005650:Fumarates; D007656:Ketoglutaric Acids; D006639:Histidine; D019289:Pyruvic Acid; C032005:fumaric acid; D008764:Methylmalonic Acid; D005649:Fumarate Hydratase; D008239:Lysine