Lipoyltransferase 1 deficiency
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs137891647 | 9 |
| rs137973334 | 9 |
| rs767568897 | 9 |
| rs786205156 | 9 |
| rs863224892 | 0 |
| rs863224893 | 0 |
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
