{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T09:17:22Z","timestamp":1789204642103,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,9,18]],"date-time":"2010-09-18T00:00:00Z","timestamp":1284768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient <jats:italic>S<\/jats:italic>\u2010adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C&gt;T; p.Arg49Cys and c.257A&gt;G; p.Asp86Gly. Clinically, the major abnormalities in addition to fetal hydrops (very likely due to impaired synthetic liver function) were severe hypotonia\/myopathy, feeding problems, and respiratory failure. Metabolic abnormalities included elevated plasma<jats:italic> S<\/jats:italic>\u2010adenosylhomocysteine,<jats:italic> S<\/jats:italic>\u2010adenosylmethionine, and methionine, with hypoalbuminemia, coagulopathies, and serum transaminase elevation. The older sister died at age 25 days, but the definitive diagnosis was made only retrospectively. The underlying genetic abnormality was diagnosed in the second sister, but treatment by means of dietary methionine restriction and supplementation with phosphatidylcholine and creatine did not prevent her death at age 122 days. These cases extend the experience with AHCY deficiency in humans, based until now on only the four patients previously identified, and suggest that the deficiency in question may be a cause of fetal hydrops and developmental abnormalities of the brain.<\/jats:p>","DOI":"10.1007\/s10545-010-9171-x","type":"journal-article","created":{"date-parts":[[2010,9,17]],"date-time":"2010-09-17T06:55:39Z","timestamp":1284706539000},"page":"705-713","source":"Crossref","is-referenced-by-count":37,"title":["<i>S<\/i>\u2010adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes"],"prefix":"10.1002","volume":"33","author":[{"given":"Randall","family":"Grubbs","sequence":"first","affiliation":[{"name":"Pediatrix Medical Group of Texas Fort Worth TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Vugrek","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Institute \u201cRu\u0111er Bo\u0161kovi\u0107\u201d Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Deisch","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center Dallas TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conrad","family":"Wagner","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Vanderbilt University Nashville TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally","family":"Stabler","sequence":"additional","affiliation":[{"name":"University of Colorado Health Sciences Center Denver CO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Allen","sequence":"additional","affiliation":[{"name":"University of Colorado Health Sciences Center Denver CO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo","family":"Bari\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Center and School of Medicine Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marko","family":"Rados","sequence":"additional","affiliation":[{"name":"Department of Radiology University Hospital Center and Zagreb School of Medicine, and Croatian Institute for Brain Research Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Harvey","family":"Mudd","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology National Institute of Mental Health Building 10, Room 2D46, 9000 Rockville Pike Bethesda MD 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,9,18]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"13","article-title":"Nutritional support of vitamin B6\u2010 nonresponsive homocystinuria.","volume":"5","author":"Acosta PB","year":"1992","journal-title":"Metabolic Currents"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M210119200"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1989.tb01780.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000009978.17777.33"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400658101"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0192-9"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/136.6.1636S"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0240-0"},{"key":"e_1_2_5_10_1","first-page":"63","volume-title":"Homocysteine in health and disease","author":"Clarke S","year":"2001"},{"key":"e_1_2_5_11_1","first-page":"A43","article-title":"The fourth S\u2010adenosylhomocysteine hydrolase deficient patient: Further evidence of congenital myopathy","volume":"45","author":"Cuk M","year":"2007","journal-title":"Clin Chem Lab Med"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00251-001-0402-z"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbapap.2008.08.016"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M300037-MCP200"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06449.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010577512912"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2007.26.1.83"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20985"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9171-x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9171-x","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9171-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T14:33:26Z","timestamp":1694788406000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9171-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,18]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-010-9171-x"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9171-x","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,18]]}}}