Literature DB >> 18174652

Neonatal nonketotic hyperglycinemia.

Rahul P Bhamkar1, Prisca Colaco.   

Abstract

Nonketotic hyperglycinemia has variable phenotypic expressions and a poor prognosis. We report a case of severe neonatal nonketotic hyperglycinemia, who started convulsing immediately after birth. His glycine index was 0.38 and he did not respond to treatment with sodium benzoate and dextromethorphan. Hypotonia, transient hyperammonemia and metabolic acidosis were associated findings.

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Year:  2007        PMID： 18174652     DOI： 10.1007/s12098-007-0212-x

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  14 in total

1.  Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia.

Authors:  A Hamosh; J F Maher; G A Bellus; S A Rasmussen; M V Johnston
Journal:  J Pediatr       Date:  1998-04       Impact factor: 4.406

Review 2.  Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects.

Authors:  S Kure; K Tada; K Narisawa
Journal:  Jpn J Hum Genet       Date:  1997-03

3.  Acute hydrocephalus in nonketotic hyperglycinemia.

Authors:  J L Van Hove; P S Kishnani; P Demaerel; S G Kahler; C Miller; J Jaeken; S L Rutledge
Journal:  Neurology       Date:  2000-02-08       Impact factor: 9.910

4.  Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.

Authors:  W B Dobyns
Journal:  Neurology       Date:  1989-06       Impact factor: 9.910

5.  Structure and expression of the glycine cleavage system in rat central nervous system.

Authors:  Y Sakata; Y Owada; K Sato; K Kojima; K Hisanaga; T Shinka; Y Suzuki; Y Aoki; J Satoh; H Kondo; Y Matsubara; S Kure
Journal:  Brain Res Mol Brain Res       Date:  2001-10-19

6.  Inborn errors of amino acid metabolism in north India.

Authors:  M Kaur; G P Das; I C Verma
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Subcortical hypointensity in partial status epilepticus associated with nonketotic hyperglycemia.

Authors:  Dae Won Seo; Dong Gyu Na; Duk L Na; So Young Moon; Seung Bong Hong
Journal:  J Neuroimaging       Date:  2003-07       Impact factor: 2.486

8.  Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Authors:  J L Van Hove; P Kishnani; J Muenzer; R J Wenstrup; M L Summar; M R Brummond; A M Lachiewicz; D S Millington; S G Kahler
Journal:  Am J Med Genet       Date:  1995-12-04

9.  Nonketotic hyperglycinemia in a newborn infant.

Authors:  G Tekinalp; T Coşkun; O Oran; I Ozalp; G Figen; H Ergin
Journal:  Turk J Pediatr       Date:  1995 Jan-Mar       Impact factor: 0.552

10.  Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.

Authors:  Yin-Hsiu Chien; Chia-Chi Hsu; Aichu Huang; Shi-Ping Chou; Frank-Li Lu; Wang-Tso Lee; Wuh-Liang Hwu
Journal:  J Child Neurol       Date:  2004-01       Impact factor: 1.987
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  3 in total

1.  The effect of hyperglycinemic treatment in captive-bred Vervet monkeys (Chlorocebus aethiops).

Authors:  Zandisiwe E Magwebu; Mikateko Mazinu; Sahar Abdul-Rasool; Chesa G Chauke
Journal:  Metab Brain Dis       Date:  2019-06-22       Impact factor: 3.584

2.  Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.

Authors:  Akella Radha Rama Devi; Lokesh Lingappa; Shaik Mohammad Naushad
Journal:  J Pediatr Genet       Date:  2018-07-06

3.  Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia.

Authors:  Norman Ramirez; John M Flynn; Francisco Casalduc; Stephanie Rodriguez; Alberto S Cornier; Simón Carlo
Journal:  J Child Orthop       Date:  2012-05-25       Impact factor: 1.548
  3 in total

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