Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients

In neonatal-onset nonketotic hyperglycinemia, severe psychomotor retardation is the expected uniform outcome. We report two patients with typical neonatal presentation who showed far better developmental outcomes. The in vitro expression analysis of the identified GLDC mutations revealed considerabl...

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Bibliographic Details
Published inThe Journal of pediatrics Vol. 144; no. 6; pp. 827 - 829
Main Authors Kure, Shigeo, Ichinohe, Akiko, Kojima, Kanako, Sato, Kenichi, Kizaki, Zenro, Inoue, Fumio, Yamanaka, Chutaro, Matsubara, Yoichi
Format Journal Article
LanguageEnglish
Published New York, NY Mosby, Inc 01.06.2004
Elsevier
Subjects
Amino Acid Oxidoreductases - genetics
Aminoacid disorders
Biological and medical sciences
DNA Mutational Analysis
Errors of metabolism
Female
Gene Expression Profiling
General aspects
Glycine Dehydrogenase (Decarboxylating)
Humans
Hyperglycinemia, Nonketotic - diagnosis
Hyperglycinemia, Nonketotic - genetics
Infant, Newborn
Japan
Medical sciences
Metabolic diseases
Phenotype
Prognosis
Japan
NMDA
NKH
GLDC
DQ
GCS
Human
Pediatrics
Nervous system diseases
Neonatal
Genetic variant
Clinical form
Metabolic diseases
Patient
Gene expression
Enzymopathy
In vitro
Genetic disease
Symptomatology
Newborn
Analysis
Interindividual comparison
Hyperglycinemia
Mutation
Aminoacid disorder
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Summary:In neonatal-onset nonketotic hyperglycinemia, severe psychomotor retardation is the expected uniform outcome. We report two patients with typical neonatal presentation who showed far better developmental outcomes. The in vitro expression analysis of the identified GLDC mutations revealed considerable residual enzyme activity, suggesting prognostic and enzymatic heterogeneity even in neonatal-onset nonketotic hyperglycinemia.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2004.02.044