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We define 3-methylglutaconic aciduria type I as an inborn error of metabolism with slowly progressive Leukoencephalopathy clinically presenting in adulthood. In contrast to the non-specific findings in pediatric cases, the clinical and neuroradiologic pattern in adult patients is highly characteristic. White matter abnormalities may already develop in the first decades of life. The variable features found in affected children may be coincidental. Long-term follow-up in children is essential to learn more about the natural course of this presumably slowly progressive disease. Dietary treatment with leucine restriction may be considered. |
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