Amish Lethal Microcephaly

Common Name(s)

Amish Lethal Microcephaly

Amish type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis and alpha-ketoglutaric aciduria (summary by {1:Kelley et al., 2002}). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 ({249270}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Amish Lethal Microcephaly" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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