scholarly journals Atypical glycine encephalopathy

2020 ◽  
Author(s):  
Keyword(s):  
Glycine Encephalopathy

Pediatric Neurotransmitter Disorders

2017 ◽  
Author(s):  
Phillip L. Pearl ◽  
William P. Welch
Keyword(s):  
Elevated Serum ◽  
Serum Levels ◽  
Acid Decarboxylase ◽  
Succinic Semialdehyde ◽  
Monoamine Synthesis ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Amino Acid Decarboxylase ◽  
Semialdehyde Dehydrogenase ◽  
Glycine Encephalopathy ◽  
Heterozygous Form

The pediatric neurotransmitter disorders represent an enlarging group of neurological syndromes characterized by inherited abnormalities of neurotransmitter synthesis, metabolism, and transport. Disorders involving monoamine synthesis include guanosine triphosphate cyclohydrolase deficiency (Segawa disease or classical Dopa-responsive dystonia as the heterozygous form), aromatic amino acid decarboxylase deficiency, tyrosine hydrolase deficiency, sepiapterin reductase deficiency, and disorders of tetrahydrobiopterin synthesis. These disorders can be classified according to whether they feature elevated serum levels of phenylalanine. Disorders of γ-amino butyric acid (GABA) metabolism include succinic semialdehyde dehydrogenase deficiency and GABA-transaminase deficiency. Glycine encephalopathy is typically manifested by refractory neonatal seizures due to a defect in the glycine degradative pathway. Pyridoxine-responsive seizures have now been associated with deficiency of α-aminoadipic semialdehyde dehydrogenase as well as a variants requiring therapy with pyridoxal-5-phosphate and folinic acid.

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing

2014 ◽  
Vol 29 (1) ◽  
pp. 211-213 ◽  
Author(s):  
Fatih Ezgu ◽  
Bahattin Çiftci ◽  
Burcu Topçu ◽  
Gülcan Adıyaman ◽  
Hatice Gökmenoğlu ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Pediatric Patient ◽  
Next Generation ◽  
Next Generation Dna Sequencing ◽  
Glycine Encephalopathy

Brain neurotransmitters in glycine encephalopathy

1988 ◽  
Vol 24 (3) ◽  
pp. 458-461 ◽  
Author(s):  
Stephen J. Kish ◽  
Lori M. Dixon ◽  
W. McLntyre Burnham ◽  
Thomas L. Perry ◽  
Lawrence Becker ◽  
...  
Keyword(s):  
Glycine Encephalopathy ◽  
Brain Neurotransmitters

Rapid diagnosis of glycine encephalopathy by13C-glycine breath test

2006 ◽  
Vol 59 (5) ◽  
pp. 862-867 ◽  
Author(s):  
Shigeo Kure ◽  
Stanley H. Korman ◽  
Junko Kanno ◽  
Ayumi Narisawa ◽  
Mitsuru Kubota ◽  
...  
Keyword(s):  
Breath Test ◽  
Rapid Diagnosis ◽  
Glycine Encephalopathy

scholarly journals Glycine encephalopathy in newborns and young children: global management standards and a clinical case

2018 ◽  
Vol 13 (6) ◽  
pp. 595-601
Author(s):  
M.A. Gonchar ◽  
O.L. Logvinova ◽  
E.M. Pushkar ◽  
O.P. Pomazunovskaya ◽  
D.A. Ivakhnenko
Keyword(s):  
Young Children ◽  
Clinical Case ◽  
Global Management ◽  
Management Standards ◽  
Glycine Encephalopathy

scholarly journals A rare case of glycine encephalopathy unveiled by valproate therapy

2015 ◽  
Vol 10 (2) ◽  
pp. 143 ◽  
Author(s):  
Velusamy Subramanian ◽  
Pramila Kadiyala ◽  
Praveen Hariharan ◽  
E Neeraj
Keyword(s):  
Rare Case ◽  
Glycine Encephalopathy
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