microcephaly Amish type

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microcephaly Amish type

An autosomal recessive metabolic disorder (OMIM:607196) characterised by severe congenital microcephaly, profoundly delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis, alpha-ketoglutaric aciduria and death within the first year.

Molecular pathology
Caused by defects in SLC25A19, which encodes a mitochondrial carrier protein that transports thiamine pyrophosphate into mitochondria.