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Abstract

Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ratio and diagnosed as nonketotic hyperglycinemia. We report these cases as 2 novel homozygous mutations; a missense mutation c.593A>T (p.D198 V) in the glycine decarboxylase gene and a splicing mutation c.339G>A (Q113Q) in the aminomethyltransferase gene were detected. We would like to emphasize the genetic difference of our region in inherited metabolic diseases once again.

Keywords

nonketotic hyperglycinemia novel mutation

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References

Childs

Nyhan

Borden

Bard

Cooke

. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. Pediatrics. 1961;27:522–538.

Yoon

Lee

Yoo

. Two novel missense mutations observed in nonketotic hyperglycinemia. Pediatr Neurol. 2012;46:401–403.

Dinopoulos

Matsubara

Kure

. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab. 2005;86:61–69.

Kure

Rolland

Leisti

. Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli–Arab mutations. Prenat Diagn. 1999;19:717–720.

Verrisimo

Garcia

Simoes

. Nonketotic hyperglycinemia: a cause of encephalopathy in children. J Child Neurol. 2013;28:251–254.

Love

Prosser

Love

. A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia. J Child Neurol. 2014;29:122–127.

Korman

Wexler

Gutman

. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. Ann Neurol. 2006;59:411–415.

Terek

Altun Koroglu

Gunes

. Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia. Pediatr Int. 2012;54:717–720.

Kanno

Hutchin

Kamada

. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet. 2007;44:69.

10.

Kure

Kato

Dinopoulos

. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat. 2006;27:343–352.

11.

Chang

Lin

. Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child. Acta Paediatr Taiwan. 2008;49:35–37.

12.

Toone

Applegarth

Coulter-Mackie

James

. Identification of the first reported splice site mutation (IVS7-1G>A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia. Hum Mutat. 2001;17:76.

13.

Kure

Mandel

Rolland

. A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia. Hum Genet. 1998;102:430–434.

14.

Applegarth

Toone

. Glycine encephalopathy (nonketotic hyperglycinaemia): review and update. J Inherit Metab Dis. 2004;27:417–422.

Two Novel Missense Mutations in Nonketotic Hyperglycinemia

Abstract

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References