KEGG DISEASE: Hyperglycinemia, lactic acidosis, and seizures

KEGG

DISEASE: Hyperglycinemia, lactic acidosis, and seizures

Entry

H02438                      Disease

Name

Hyperglycinemia, lactic acidosis, and seizures

Description

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.

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
     H02438  Hyperglycinemia, lactic acidosis, and seizures
Pathway-based classification of diseases [BR:br08402]
Cofactor/vitamin metabolism
  nt06032  Lipoic acid metabolism
   H02438  Hyperglycinemia, lactic acidosis, and seizures

Pathway

Lipoic acid metabolism

Network

nt06032 Lipoic acid metabolism

Gene

LIAS [HSA:11019] [KO:K03644]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL

Title

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Journal

Brain 137:366-79 (2014)
DOI:10.1093/brain/awt328

Reference

Authors

Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W

Title

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

Journal

Am J Hum Genet 89:792-7 (2011)
DOI:10.1016/j.ajhg.2011.11.011

Reference

Authors

Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K

Title

Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.

Journal

Neurosciences (Riyadh) 22:4-13 (2017)
DOI:10.17712/nsj.2017.1.20160542

LinkDB

» Japanese version

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