Biallelic start loss variant, c. 1A  > G in GCSH is associated with variant nonketotic hyperglycinemia

2021 ◽  
Author(s):  
Purvi Majethia ◽  
Puneeth Hirivate Somashekar ◽  
Malavika Hebbar ◽  
Rajagopal Kadavigere ◽  
Balike Krishna Praveen ◽  
...  
Keyword(s):  
Loss Variant ◽  
Nonketotic Hyperglycinemia

Nonketotic hyperglycinemia and epilepsy

2015 ◽  
Vol 03 (04) ◽  
pp. 207-215
Author(s):  
Julia Hennermann
Keyword(s):  
Nonketotic Hyperglycinemia

An Integrative Approach to Predict Phenotypic Severity in Nonketotic Hyperglycinemia

2021 ◽  
Author(s):  
Oya Kuseyri Hübschmann ◽  
Natalia Alexandra Julia Palacios ◽  
Mireia Olivella ◽  
Philipp Guder ◽  
Dimitrios I. Zafeiriou ◽  
...  
Keyword(s):  
Integrative Approach ◽  
Nonketotic Hyperglycinemia

Efficacy of Tryptophan for the Treatment of Nonketotic Hyperglycinemia: A New Therapeutic Approach for Modulating the N-Methyl-D-aspartate Receptor

PEDIATRICS ◽  
1995 ◽  
Vol 95 (1) ◽  
pp. 142-146
Author(s):  
Satoshi Matsuo ◽  
Fumio Inoue ◽  
Yoshihiro Takeuchi ◽  
Hiroshi Yoshioka ◽  
Akihiko Kinugasa ◽  
...  
Keyword(s):  
Excitatory Amino Acid ◽  
Muscular Hypotonia ◽  
Inherited Disease ◽  
Excitatory Amino Acid Receptors ◽  
Amino Acid Receptors ◽  
Aspartate Receptor ◽  
Cleavage Enzyme ◽  
Glycine Cleavage ◽  
Glycine Level ◽  
Nonketotic Hyperglycinemia

Nonketotic hyperglycinemia (NKH) is a rare inherited disease caused by a defect of the glycine cleavage enzyme.1 Especially in the neonatal type, neurological symptoms such as muscular hypotonia, seizures, respiratory distress, and lethargy develop rapidly, and the prognosis is unfavorable.1 Elevation of glycine in the cerebrospinal fluid (CSF) is thought to be responsible for these symptoms. However, management is quite difficult, because it is not well understood how elevation of glycine causes these symptoms. Lowering of the glycine level in CSF with sodium benzoate is not enough to avoid severe psychomotor and mental retardation. The N-methyl-D-aspartate (NMDA) receptor, which is one of the excitatory amino acid receptors, has a glycine binding site.2

Megalocornea in Nonketotic Hyperglycinemia

1978 ◽  
Vol 15 (2) ◽  
pp. 85-88
Author(s):  
Creig S Hoyt ◽  
Richard A Brown
Keyword(s):  
Nonketotic Hyperglycinemia

scholarly journals Biochemical diagnosis of nonketotic hyperglycinemia in Cuba

2018 ◽  
Vol 33 (8) ◽  
pp. 549-550
Author(s):  
J. Contreras-Roura ◽  
I. Camayd-Viera ◽  
A.D. Padrón-Díaz ◽  
L. Martínez-Rey
Keyword(s):  
Biochemical Diagnosis ◽  
Nonketotic Hyperglycinemia

scholarly journals New Pathogenic Mutations on GLDC gene leading to Classic Nonketotic Hyperglycinemia

2021 ◽  
Vol 18 (4) ◽  
Author(s):  
Teresa Almeida ◽  
Isabel Tavares Almeida ◽  
Andreia Forno ◽  
Luis Rodrigues ◽  
Rita Jotta ◽  
...  
Keyword(s):  
Pathogenic Mutations ◽  
Gldc Gene ◽  
Nonketotic Hyperglycinemia

scholarly journals Dependence-Maximization Clustering with Least-Squares Mutual Information

2011 ◽  
Vol 15 (7) ◽  
pp. 800-805 ◽  
Author(s):  
Manabu Kimura ◽  
◽  
Masashi Sugiyama
Keyword(s):  
Mutual Information ◽  
Least Squares ◽  
Cross Validation ◽  
Unsupervised Clustering ◽  
Statistical Dependence ◽  
Clustering Method ◽  
Regularization Parameters ◽  
Loss Variant ◽  
Dependence Measures ◽  
Kernel Parameters

Recently, statistical dependence measures such as mutual information and kernelized covariance have been successfully applied to clustering. In this paper, we follow this line of research and propose a novel dependence-maximization clustering method based on least-squares mutual information, which is an estimator of a squared-loss variant of mutual information. A notable advantage of the proposed method over existing approaches is that hyperparameters such as kernel parameters and regularization parameters can be objectively optimized based on cross-validation. Thus, subjective manual-tuning of hyperparameters is not necessary in the proposed method, which is a highly useful property in unsupervised clustering scenarios. Through experiments, we illustrate the usefulness of the proposed approach.

Neonatal Nonketotic Hyperglycinemia: A Case Study and Review of Management for the Advanced Practice Nurse

2013 ◽  
Vol 32 (2) ◽  
pp. 95-103 ◽  
Author(s):  
Joanna L. Mulligan
Keyword(s):  
Autosomal Recessive ◽  
Practice Nurse ◽  
Advanced Practice ◽  
Advanced Practice Nurse ◽  
Neurologic Impairment ◽  
Intractable Seizures ◽  
Glycine Metabolism ◽  
Nonketotic Hyperglycinemia

Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of glycine metabolism. In this article, I will present the case of baby girl S. who presented to the emergency room on Day 4 of life with severe lethargy, seizures, and respiratory depression requiring mechanical ventilation. A diagnosis of NKH was made secondary to elevated plasma and cerebrospinal fluid glycine concentrations. I will review the pathophysiology of NKH, methods of diagnosis, and the differential diagnosis. There are a variety of different pharmacologic and alternative therapies for NKH. Despite these treatments, the prognosis for infants with NKH is poor, with severe neurologic impairment, intractable seizures, and death common before 5 years of age. I will address the role of the advanced practice nurse in caring for an infant with NKH including clinical, educational, and research implications.

Nonketotic hyperglycinemia

1970 ◽  
Vol 77 (1) ◽  
pp. 164-165 ◽  
Author(s):  
A. Okken ◽  
C.J. de Groot ◽  
F.A. Hommes
Keyword(s):  
Nonketotic Hyperglycinemia
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