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  • Fumarase deficiency in dichorionic diamniotic twins.

    Author(s)
    Tregoning, Simone
    Salter, Wendy
    Thorburn, David R
    Durkie, Miranda
    Panayi, Maria
    Wu, Joyce Y
    Easterbrook, Aaron
    Coman, David J
    Griffith University Author(s)
    Coman, Dave J.
    Year published
    2013
    Metadata
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    Abstract
    Fumarase deficiency is a rare autosomal recessive inborn error of metabolism of the Krebs Tricarboxylic Acid cycle. A heavy neurological disease burden is imparted by fumarase deficiency, commonly manifesting as microcephaly, dystonia, global developmental delay, seizures, and lethality in the infantile period. Heterozygous carriers also carry an increased risk of developing hereditary leiomyomatosis and renal cell carcinoma. We describe a non-consanguineous family in whom a dichorionic diamniotic twin pregnancy resulted in twin boys with fumarase deficiency proven at the biochemical, enzymatic, and molecular levels. Their ...
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    Fumarase deficiency is a rare autosomal recessive inborn error of metabolism of the Krebs Tricarboxylic Acid cycle. A heavy neurological disease burden is imparted by fumarase deficiency, commonly manifesting as microcephaly, dystonia, global developmental delay, seizures, and lethality in the infantile period. Heterozygous carriers also carry an increased risk of developing hereditary leiomyomatosis and renal cell carcinoma. We describe a non-consanguineous family in whom a dichorionic diamniotic twin pregnancy resulted in twin boys with fumarase deficiency proven at the biochemical, enzymatic, and molecular levels. Their clinical phenotype included hepatic involvement. A novel mutation in the fumarate hydratase gene was identified in this family.
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    Journal Title
    Twin Research and Human Genetics
    Volume
    16
    Issue
    6
    DOI
    https://doi.org/10.1017/thg.2013.72
    Subject
    Clinical sciences
    Cognitive and computational psychology
    Publication URI
    http://hdl.handle.net/10072/64236
    Collection
    • Journal articles

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