Literature DB >> 8636821

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.

R D Steiner1, D A Sweetser, J R Rohrbaugh, S B Dowton, J R Toone, D A Applegarth.   

Abstract

A 16-year-old boy had intermittent chorea, delirium, and vertical gaze palsy precipitated by febrile illness. Nonketotic hyperglycinemia was confirmed by measurement of liver and lymphoblast glycine cleavage enzyme activity. Deficient but residual enzyme activity was demonstrated in both tissues, possibly accounting for the mild phenotype. Confirmation of an atypical variant of nonketotic hyperglycinemia with residual glycine cleavage enzyme activity has important implications for diagnosis and treatment.

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Year:  1996        PMID： 8636821     DOI： 10.1016/s0022-3476(96)70399-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  11 in total

1.  Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Authors:  J L K Van Hove; K Vande Kerckhove; J B Hennermann; V Mahieu; P Declercq; S Mertens; M De Becker; P S Kishnani; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  [Clinical and molecular genetic characteristics of nonketotic hyperglycinemia].

Authors:  Hai-Feng Li
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-03

3.  Glycine receptors support excitatory neurotransmitter release in developing mouse visual cortex.

Authors:  Portia A Kunz; Alain C Burette; Richard J Weinberg; Benjamin D Philpot
Journal:  J Physiol       Date:  2012-09-17       Impact factor: 5.182

Review 4.  Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Authors:  Ettore Salsano; Chizoba Umeh; Alessandra Rufa; Davide Pareyson; David S Zee
Journal:  Neurol Sci       Date:  2012-07-19       Impact factor: 3.307

5.  Pulmonary hypertension associated with nonketotic hyperglycinaemia.

Authors:  S Cataltepe; L J van Marter; H Kozakewich; D L Wessel; P J Lee; H L Levy
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

6.  Glycine intracerebroventricular administration disrupts mitochondrial energy homeostasis in cerebral cortex and striatum of young rats.

Authors:  Alana Pimentel Moura; Mateus Grings; Belisa Dos Santos Parmeggiani; Gustavo Flora Marcowich; Anelise Miotti Tonin; Carolina Maso Viegas; Angela Zanatta; César Augusto João Ribeiro; Moacir Wajner; Guilhian Leipnitz
Journal:  Neurotox Res       Date:  2013-05-03       Impact factor: 3.911

7.  Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.

Authors:  Timothy F Tramontana; Theodore E Wilson; Bryan E Hainline
Journal:  JIMD Rep       Date:  2021-03-31

8.  A rare case of glycine encephalopathy unveiled by valproate therapy.

Authors:  Velusamy Subramanian; Pramila Kadiyala; Praveen Hariharan; E Neeraj
Journal:  J Pediatr Neurosci       Date:  2015 Apr-Jun

9.  Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Authors:  Michael A Swanson; Curtis R Coughlin; Gunter H Scharer; Heather J Szerlong; Kendra J Bjoraker; Elaine B Spector; Geralyn Creadon-Swindell; Vincent Mahieu; Gert Matthijs; Julia B Hennermann; Derek A Applegarth; Jennifer R Toone; Suhong Tong; Kristina Williams; Johan L K Van Hove
Journal:  Ann Neurol       Date:  2015-08-10       Impact factor: 10.422

Review 10.  Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.

Authors:  F Sedel; J-M Saudubray; E Roze; Y Agid; M Vidailhet
Journal:  J Inherit Metab Dis       Date:  2008-05-30       Impact factor: 4.750
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