microcephaly Amish type
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.