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Article

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

Molecular genetics and metabolism - 1 Jan 2000

Strauss Kevin A, Ferreira Carlos, Bottiglieri Teodoro, Zhao Xueqing, Arning Erland, Zhang Shucha, Zeisel Steven H, Escolar Maria L, Presnick Nancy, Puffenberger Erik G, Vugrek Oliver, Kovacevic Lucija, Wagner Conrad, Mazariegos George V, Mudd S Harvey, Soltys Kyle

Abstract excerpt

A child with severe S-adenosylhomocysteine hydrolase (AHCY) deficiency (AHCY c.428A>G, p.Tyr143Cys; c.982T>G, p.Tyr328Asp) presented at 8 months of age with growth failure, microcephaly, global developmental delay, myopathy, hepatopathy, and factor VII deficiency. Plasma methionine, S-adenosylmethionine (AdoMet), and S-adenosylhomocysteine (AdoHcy) were markedly elevated and the molar concentration ratio of...

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Identifiers

PMID: 26095522
DOI: 10.1016/j.ymgme.2015.06.005

Genes

AHCY

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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