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Clinical and genetic analysis of nonketotic hyperglycinemia:A case report

World Journal of Clinical Cases 2022年第22期10卷 7982-7988页

作者： Jun-Jie Ning Feng Li Sheng-Qiu Li Department of Pediatric Intensive Care Unit First People's Hospital of Zigong CityZigong 643000Sichuan ProvinceChina

BACKGROUND nonketotic hyperglycinemia(NKH)is a rare autosomal recessive genetic disorder of abnormal glycine metabolism caused by insufficient activity of the glycine cleavage enzyme *** is believed to function mainly as an inhibitory neurotransmitter,but it can also act as a co-agonist of the N-methyl-D-aspartate(NMDA)*** accumulation of a large amount of glycine in the brain leads to neuronal and axonal injury via overactivation of NMDA receptors located in the hippocampus,cerebral cortex,olfactory bulb,and cerebellum and to stimulation of the inhibitory function of glycine receptors located in the spinal cord and brain stem,resulting in central apnea,hiccups,and hypotonia in the early stage of the *** SUMMARY The child described in this report had typical clinical manifestations of NKH,such as hiccups,disturbance of consciousness,hypotonia,and convulsions,within the first week after ***-exome genetic testing revealed that the child had a compound heterozygous mutation,namely,c.395C>A(p.S132X)and c.2182G>A(p.G728R),in the GLDC gene,and he was diagnosed with *** treatment,we administered an oral levetiracetam solution and added topiramate and prednisone for epilepsy control,but the epilepsy remained *** diet therapy was started at 6 mo of age,his seizures were significantly reduced,and there were no obvious adverse reactions during ketogenic ***,we found that with the development of the disease,high levels of serum glycine decreased or even disappeared without intervention,and as the disease progressed,the corpus callosum became *** This case shows that plasma glycine levels cannot be used to evaluate the prognosis of NKH,that the development of the corpus callosum can be affected by NKH,and that a ketogenic diet may be effective for seizure control in NKH patients.

关键词： nonketotic hyperglycinemia Compound heterozygosity GLDC gene Case report

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Hemichorea Associated with Non-ketotic Hyperglycemia:A Case Report and Review of the Literature

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Journal of Advances in Medicine Science 2022年第1期5卷 19-23页

作者： Qin Xu Qijun Dai Hai’an Hospital of traditional Chinese Medicine NantongJiangsu226600China

Hemichorea associated with non-ketotic hyperglycemia(HC-NH)is a rare *** purpose of this case report is to introduce a patient with HC-NH and provide a schedule of examination and follow-up *** also reviewed the current understanding of pathophysiology and treatment and how to apply it to our *** case involved a 37-year-old Asian diabetic man who had a 9-day history of losing movement in left limbs and *** initial blood glucose level was 10.13 mmol/***1c was 13.6%.Before admission,head CT scan showed suspicious small pieces of left brainstem with slightly high-density shadow and right putamen nucleus with high-density *** the day of admission,head MRI showed punctate T1WI low signal shadow,T2WI high and low mixed signal shadow,T1WI high signal shadow and T2WI low signal shadow of right putamen *** case findings were consistent with his displayed motor pattern and with the HC-NH *** control of the blood glucose levels alleviates his choreiform *** endocrinology follow-up 6 months after discharge found that his symptoms did not recur after the outpatient’s medication compliance was ***-NH is a rare manifestation of poor diabetes control,but it should also be noticed by *** recognition and gradual treatment of elevated blood glucose levels seem to completely alleviate choreiform symptoms.

关键词： Chorea Diabetes mellitus nonketotic hyperglycinemia

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