Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.

Abstract excerpt

Methionine adenosyltransferase I/III deficiency, also known as Mudd's disease, is a rare inborn error of methionine metabolism. Because pathophysiological mechanisms of the disease remain poorly understood, the consequences of this disorder and the need for medical management remain uncertain; likewise, the effect of medical interventions on clinical outcomes in Mudd's disease is largely unknown due to a relative...

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