Hyperglycinemia, lactic acidosis, and seizures

Definition:

Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is characterized by neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Mutations in the lipoate synthase gene (LIAS) have been identified in patients with HGCLAS. LIAS is essential in the maturation of lipoic acid which acts as cofactor for mitochondrial enzymes.

References:

[1]. Johannes A Mayr, et al. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet. 2011 Dec 9;89(6):792-7. [Content Brief]

[2]. Majid Alfadhel, et al. Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. Neurosciences (Riyadh). 2017 Jan;22(1):4-13. [Content Brief]

[3]. Peter R Baker 2nd, et al. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb;137(Pt 2):366-79. [Content Brief]

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