Abstract

GENCPINAR, Pinar et al. Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report. Arch. argent. pediatr. [online]. 2016, vol.114, n.3, pp.e142-e146. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2016.e142.

Nonketotic hyperglycinemia is a rare autosomal recessively inherited metabolic disorder, caused by a deficiency in the mitochondrial glycine cleavage system. The overall incidence of nonketotic hyperglycinemia is unknown, but is higher in certain populations such as north Finland (1/12,000) and British Colombia (1/63,000). Three genes (GLDC, AMT and GCSH) are known to cause nonketotic hyperglycinemia. Mutations in the AMT gene are responsible for 20% of nonketotic hyperglycinemia cases. We describe a novel stop codon mutation (c.565C>T, p.Q189*) in AMT gene in a four-month male infant with nonketotic hyperglycinemia.

Keywords : Seizure; Hiccups; AMT gene mutation; Infant; Hypotonia.

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