Lipoyltransferase 1 deficiency (LIPT1D) is a fatal disease associated with encephalopathy and pulmonary hypertension. Mutations in LIPT1 gene cause this disease. LIPT1 encodes a mitochondrial lipoyltransferase which is thought to catalyze the attachment of lipoic acid on pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H02643 Lipoyltransferase 1 deficiency
Pathway-based classification of diseases [BR:br08402]
Cofactor/vitamin metabolism
nt06032 Lipoic acid metabolism
H02643 Lipoyltransferase 1 deficiency
Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chretien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P
Title
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Tort F, Ferrer-Cortes X, Thio M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, Garcia-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, Garcia-Cazorla A, Briones P, Ribes A
Title
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
