Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Bayrak, Harun; Yıldız, Yılmaz; Olgaç, Asburçe; Kasapkara, Çiğdem Seher; Küçükçongar, Aynur; Zencıroğlu, Ayşegül; Yüksel, Deniz; Ceylaner, Serdar; Kılıç, Mustafa

doi:10.1007/s11011-021-00718-3

Cited by 6 publications

(20 citation statements)

References 41 publications

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“…Based on the follow-up of patients with NKH, it was shown that the use of sodium benzoate therapy reduced the frequency of epileptic seizures and improved patient alertness [ 14 , 15 , 20 , 21 , 22 , 23 , 24 ]. However, in severe disease, it did not affect the progress of psychomotor development or drug-resistant epilepsy.…”

Section: Pharmacotherapymentioning

confidence: 99%

“…However, in severe disease, it did not affect the progress of psychomotor development or drug-resistant epilepsy. Due to the fact that the implementation of the therapy did not prevent the occurrence of a serious delay in psychomotor development, the therapy was considered ineffective [ 8 , 9 , 20 ].…”

Section: Pharmacotherapymentioning

confidence: 99%

“…Another patient had a poor prognosis with severe developmental delay. The therapy in severe NKH influenced only partial seizure control and the normalization in the glycine level with no impact on the developmental outcome [ 20 ].…”

Section: Pharmacotherapymentioning

confidence: 99%

“…The findings of the studies above confirm that therapy with benzoate and dextromethorphan has a positive effect during the neonatal period. It results in a significantly milder course of severe NKH in the neonatal period, which includes improvement in apnea, respiratory disturbances, muscle hypotonia or a reduction in seizure frequency [ 8 , 18 , 20 , 25 , 31 ]. It may have a positive effect on the quality of life of the patients with the severe variant of the disease.…”

Section: Pharmacotherapymentioning

confidence: 99%

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Nonketotic Hyperglycinemia: Insight into Current Therapies

Nowak

Chuchra

Paprocka

2022

JCM

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Nonketotic hyperglycinemia (NKH) is a rare inborn error of glycine metabolism that is characterized by the accumulation of glycine in all tissues, especially in the central nervous system (CNS). Based on clinical outcomes, NKH can be divided into two forms, i.e., severe and attenuated NKH. A poor prognosis, including no developmental progress and intractable epilepsy, is typical of severe NKH, whereas patients with the attenuated form present with varied symptoms and neurodevelopmental outcomes. So far, no causal treatment of NKH is known. Currently, the therapy is based on sodium benzoate and NMDA (The N-methyl-D-aspartate receptor) receptor site antagonists (dextromethorphan, ketamine). Different clinical outcomes of the therapy raise doubts about the effectiveness of the treatment. The purpose of this review is to summarize the therapeutic potential, challenges and effectiveness of different NKH therapies.

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Section: Pharmacotherapymentioning

confidence: 99%

Section: Pharmacotherapymentioning

confidence: 99%

Section: Pharmacotherapymentioning

confidence: 99%

Section: Pharmacotherapymentioning

confidence: 99%

See 2 more Smart Citations

Nonketotic Hyperglycinemia: Insight into Current Therapies

Nowak

Chuchra

Paprocka

2022

JCM

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“…And the symptoms worsen in a short period of time, and most children need ventilator support. Approximately 80% of NKH is caused by mutations in the GLDC gene ( Bayrak et al, 2021 ). The AMT gene mutation causes approximately 20% of cases ( Cao et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia

et al. 2022

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Background: Nonketotic hyperglycinemia is a metabolic disease with autosomal recessive inheritance due to the glycine cleavage system (GCS) defect leading to the accumulation of glycine that causes severe and fatal neurological symptoms in the neonatal period.Methods: Genomic DNA was extracted from the peripheral blood of the female proband and her family members. The AMT variation was detected in the patient by whole-exome sequencing (WES), and the variant was validated by Sanger sequencing.Results: The WES showed that there were novel compound heterozygous frameshift variations c.977delA (p.Glu326Glyfs*12) and c.982_983insG (p.Ala328Glyfs*22) in exon eight of the AMT gene (NM_000481.4) in the proband. Genetic analysis showed that the former was inherited from the mother, and the latter was inherited from the father.Conclusion: We report the novel compound heterozygous variation of the AMT gene in a Chinese girl with NKH by WES, which has never been reported previously. Our case expanded the AMT gene mutation spectrum, further strengthened the understanding of NKH, and deepened the genetic and clinical heterogeneity of the disease. However, the study of treatment and prognosis is still our future challenge and focus.

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