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<i>S</i>‐adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes

17 Sept 2010

Abstract excerpt

This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly. Clinically, the major abnormalities in addition to fetal hydrops (very likely due to impaired synthetic liver function)...

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PMID: 20852937
DOI: 10.1007/s10545-010-9171-x

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