DETECTION OF ALDEHYDE DEHYDROGENASE-DEFICIENCY IN CHACHI INDIANS, ECUADOR

The activity of mitochondrial aldehyde dehydrogenase (ALDH2) was teste d by isoelectric focusing of hair root extracts from 50 Chachi Indians (Ecuador). Quality of extracts and the intactness of cytoplasmic and mitochondrial enzymes were ascertained by assaying of phosphoglucomuta se (PGM) and malate dehydrogenase (MDH) in the same extracts. Three of the 39 successfully assayed Chachi Indian samples showed virtual abse nce of the ALDH2 band on the isoelectropherogram, and the control enzy mes were stained normally in these subjects. These data confirm the ex istence of a mitochondrial ALDH deficiency among South American Indian s. The molecular origin of the ALDH2 deficiency in this population is unknown.