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Lipoyltransferase 1 deficiency

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude
rs1379733349
rs7675688979
rs7862051569
rs8632248920
rs8632248930

Lipoyltransferase 1 deficiency is a recessively inherited disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension.[1]

News article about LIPT1 mutations