BACKGROUND Nonketotic hyperglycinemia(NKH)is a rare autosomal recessive genetic disorder of abnormal glycine metabolism caused by insufficient activity of the glycine cleavage enzyme system.Glycine is believed to func...BACKGROUND Nonketotic hyperglycinemia(NKH)is a rare autosomal recessive genetic disorder of abnormal glycine metabolism caused by insufficient activity of the glycine cleavage enzyme system.Glycine 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)receptor.The 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 disease.CASE 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 birth.Whole-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 NKH.For treatment,we administered an oral levetiracetam solution and added topiramate and prednisone for epilepsy control,but the epilepsy remained uncontrollable.Ketogenic diet therapy was started at 6 mo of age,his seizures were significantly reduced,and there were no obvious adverse reactions during ketogenic treatment.Furthermore,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 dysplastic.CONCLUSION 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.展开更多
Hemichorea associated with non-ketotic hyperglycemia(HC-NH)is a rare disease.The purpose of this case report is to introduce a patient with HC-NH and provide a schedule of examination and follow-up treatment.We also r...Hemichorea associated with non-ketotic hyperglycemia(HC-NH)is a rare disease.The purpose of this case report is to introduce a patient with HC-NH and provide a schedule of examination and follow-up treatment.We also reviewed the current understanding of pathophysiology and treatment and how to apply it to our patients.The case involved a 37-year-old Asian diabetic man who had a 9-day history of losing movement in left limbs and face.His initial blood glucose level was 10.13 mmol/L.HbA1c 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 shadow.On 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 nucleus.The case findings were consistent with his displayed motor pattern and with the HC-NH diagnosis.Gradual control of the blood glucose levels alleviates his choreiform symptoms.The endocrinology follow-up 6 months after discharge found that his symptoms did not recur after the outpatient’s medication compliance was improved.HC-NH is a rare manifestation of poor diabetes control,but it should also be noticed by clinicians.Early recognition and gradual treatment of elevated blood glucose levels seem to completely alleviate choreiform symptoms.展开更多
文摘BACKGROUND Nonketotic hyperglycinemia(NKH)is a rare autosomal recessive genetic disorder of abnormal glycine metabolism caused by insufficient activity of the glycine cleavage enzyme system.Glycine 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)receptor.The 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 disease.CASE 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 birth.Whole-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 NKH.For treatment,we administered an oral levetiracetam solution and added topiramate and prednisone for epilepsy control,but the epilepsy remained uncontrollable.Ketogenic diet therapy was started at 6 mo of age,his seizures were significantly reduced,and there were no obvious adverse reactions during ketogenic treatment.Furthermore,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 dysplastic.CONCLUSION 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.
文摘Hemichorea associated with non-ketotic hyperglycemia(HC-NH)is a rare disease.The purpose of this case report is to introduce a patient with HC-NH and provide a schedule of examination and follow-up treatment.We also reviewed the current understanding of pathophysiology and treatment and how to apply it to our patients.The case involved a 37-year-old Asian diabetic man who had a 9-day history of losing movement in left limbs and face.His initial blood glucose level was 10.13 mmol/L.HbA1c 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 shadow.On 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 nucleus.The case findings were consistent with his displayed motor pattern and with the HC-NH diagnosis.Gradual control of the blood glucose levels alleviates his choreiform symptoms.The endocrinology follow-up 6 months after discharge found that his symptoms did not recur after the outpatient’s medication compliance was improved.HC-NH is a rare manifestation of poor diabetes control,but it should also be noticed by clinicians.Early recognition and gradual treatment of elevated blood glucose levels seem to completely alleviate choreiform symptoms.
