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- Title
Fumarase Deficiency in Dichorionic Diamniotic Twins.
- Authors
Tregoning, Simone; Salter, Wendy; Thorburn, David R.; Durkie, Miranda; Panayi, Maria; Wu, Joyce Y.; Easterbrook, Aaron; Coman, David J
- 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 clinical phenotype included hepatic involvement. A novel mutation in the fumarate hydratase gene was identified in this family.
- Subjects
TWIN studies; GENOTYPE-environment interaction; FUMARATE hydratase; DECARBOXYLASES; RENAL cell carcinoma; KREBS cycle; GENETIC mutation
- Publication
Twin Research & Human Genetics, 2013, Vol 16, Issue 6, p1117
- ISSN
1832-4274
- Publication type
Article
- DOI
10.1017/thg.2013.72