Fumarase deficiency presenting with periventricular cysts

• DOI: 10.1007/s10545-005-0044-7
• Publication Date: 2005-09-07T19:05:23Z
• Authors: J. Loeffen; R. Smeets; T. Voit; G. Hoffmann; J. Smeitink
• Keywords: Heterozygote; DNA, Complementary; Leukomalacia, Periventricular; DNA Mutational Analysis; Medizin; Fumarate Hydratase; 03 medical and health sciences; Fatal Outcome; UMCN 5.3: Cellular energy metabolism; Fumarates; Humans; Histidine; 0303 health sciences; Cysts; Lysine; Infant, Newborn; Brain; Electroencephalography; Phenotype; Mutation; NCMLS 4: Energy and redox metabolism; Ketoglutaric Acids; Female; IGMD 8: Mitochondrial medicine; Metabolism, Inborn Errors; Methylmalonic Acid

SummaryA 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.