2015
DOI: 10.1016/j.ymgme.2015.10.009
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Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency

Abstract: Background The etiology of liver disease remains elusive in some adults presenting with severe hepatic dysfunction. Methods and results Here we describe a woman of Pakistani descent who had elevated aminotransferases at age 23. She developed muscle weakness in her mid-20s, and was diagnosed with hepatocellular carcinoma at age 29. She died without a diagnosis at age 32 after having a liver transplant. Exome sequencing revealed that she was homozygous for a missense mutation (R49H) in AHCY, the gene encoding … Show more

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Cited by 40 publications
(51 citation statements)
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“…Vugrek et al [8] reported 2 novel allelic missense AHCY mutations resulting in a defective S-adenosylhomocysteine hydrolase enzyme in an infant girl who died at 4 months. In the adult literature, there is a case report of a woman who presented at age 23 years with elevated liver enzymes and muscle weakness and was diagnosed with hepatocellular carcinoma and passed away at age 32 years following liver transplantation [9]. Exome sequencing in that patient revealed she was homozygous for a missense AHCY mutation.…”
Section: Discussionmentioning
confidence: 99%
“…Vugrek et al [8] reported 2 novel allelic missense AHCY mutations resulting in a defective S-adenosylhomocysteine hydrolase enzyme in an infant girl who died at 4 months. In the adult literature, there is a case report of a woman who presented at age 23 years with elevated liver enzymes and muscle weakness and was diagnosed with hepatocellular carcinoma and passed away at age 32 years following liver transplantation [9]. Exome sequencing in that patient revealed she was homozygous for a missense AHCY mutation.…”
Section: Discussionmentioning
confidence: 99%
“…This enzyme catalyzes the final step in the conversion of methionine to homocysteine. Disease severity and phenotype can be variable; however, most affected individuals exhibit delayed psychomotor development and hypotonia at birth, accompanied by elevated serum aminotransferase [29]. Elevated levels of muscle enzymes such as CK, LDH, and AST have been also reported in a few cases [30].…”
Section: Discussionmentioning
confidence: 99%
“…Elevated levels of muscle enzymes such as CK, LDH, and AST have been also reported in a few cases [30]. Importantly, dietary methionine restriction and dietary supplements of creatine and phosphatidylcholine can substantially lower circulating levels of methionine in SAH hydrolase-deficient patients [29, 31], though its long-term clinical benefits are still unknown.…”
Section: Discussionmentioning
confidence: 99%
“…We are aware of a total of five patients with GNMT deficiency, four reported in extenso in three publications (Mudd et al 2001b; Augoustides-Savvopoulou et al 2003; Barić et al 2016), nine patients with SAHH deficiency reported in seven publications in detail (Barić et al 2004, 2005; Buist et al 2006; Grubbs et al 2010; Honzík et al 2012; Strauss et al 2015; Stender et al 2015) and 21 patients with ADK deficiency, 20 of them reported in four articles in extenso (Bjursell et al 2011; Labrune et al 1990; Staufner et al 2016a, b). Very recently, almost all known patients with MAT I/III deficiency (in total 64 patients) were extensively described (Chien et al 2015).…”
Section: Methodsmentioning
confidence: 99%