Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies

J Inherit Metab Dis. 2000 Nov;23(7):757-9. doi: 10.1023/a:1005667906032.

Authors

N J Manning¹, S E Olpin, R J Pollitt, M Downing, A F Heeley, I D Young

Affiliation

¹ Department of Chemical Pathology and Neonatal Screening, The Children's Hospital, Sheffield, UK.

PMID: 11117439
DOI: 10.1023/a:1005667906032

No abstract available

Publication types

Case Reports

MeSH terms

Amniotic Fluid / metabolism*
Fatal Outcome
Female
Fumarate Hydratase / deficiency*
Fumarates / metabolism*
Humans
Infant, Newborn
Male
Pregnancy
Pregnancy Complications / enzymology*

Substances

Fumarates
fumaric acid
Fumarate Hydratase