Fumarase deficiency in dichorionic diamniotic twins.
Twin Res Hum Genet
; 16(6): 1117-20, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-24182348
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiências do Desenvolvimento
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Doenças em Gêmeos
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Fumarato Hidratase
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Hepatopatias
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Female
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Humans
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Male
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article