LIPT1, lipoyltransferase 1, 51601

N. diseases: 55; N. variants: 5
Disease: Deficiency of dehydrogenase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291311
Disease: Deficiency of dehydrogenase
Deficiency of dehydrogenase 		0.020 Biomarker disease BEFREE LIPT1 deficiency spares GCS deficiency and has been associated with a biochemical signature of combined 2-oxoacid dehydrogenase deficiency leading to early death or Leigh-like encephalopathy. 28757203 2017
CUI: C1291311
Disease: Deficiency of dehydrogenase
Deficiency of dehydrogenase 		0.020 Biomarker disease BEFREE LIPT1 deficiency spares the GCS, and resulted in a combined 2-oxoacid dehydrogenase deficiency and early death in one patient and in a less severely affected individual with a Leigh-like phenotype. 24777537 2014