SciELO - Scientific Electronic Library Online

 
vol.115 issue4Loeys-Dietz Syndrome, 3 generations, 4 familial casesBrain abscess in children: ten years of experience in a third level pediatric hospital author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO

Share


Archivos argentinos de pediatría

Print version ISSN 0325-0075On-line version ISSN 1668-3501

Abstract

LIU, Shu et al. Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. Arch. argent. pediatr. [online]. 2017, vol.115, n.4, pp.e225-e229. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2017.e225.

Nonketotic hyperglycinemia is an extremely rare autosomal recessively inherited glycine encephalopathy caused by a deficiency in the mitochondrial glycine cleavage system, which leads to severe clinical symptoms. Nonketotic hyperglycinemia is characterized by complex and diverse phenotypes, such as hypotonia, seizures, cognitive impairment, developmental delays and myoclonic jerks that may lead to apnea and even death. Here we report a 1-year-old boy with myoclonic seizures, hypotonia and coma; he had elevated plasma and cerebrospinal fluid glycine levels, and cerebrospinal fluid/plasma glycine ratio was 0.24. Two novel heterozygous mutations confirm the diagnosis of nonketotic hyperglycinemia. One is a missense mutation c.2516A>G (p.Y839C) and the other one is a splicing mutation c.2457+2T>A in the GLDC gene.

Keywords : Nonketotic hyperglycinemia; GLDC gene; Novel mutations; Glycine decarboxylase; Encephalopathy.

        · abstract in Spanish     · text in Spanish     · English ( pdf ) | Spanish ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License