Lipoic acid biosynthesis defects.
Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W.
Mayr JA, et al.
J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705-8. Epub 2014 Apr 29.
J Inherit Metab Dis. 2014.
PMID: 24777537
Review.
Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined with a defect in mitochondrial energy metabolism with encephalopathy and cardiomyopathy. LIPT1 deficiency spares the GCS, and resulted i …
Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined wit …