nonketotic hyperglycinemia
Efficacy of Low-dose Dextromethorphan in the Treatment of Nonketotic Hyperglycinemia
... NKH, nonketotic hyperglycinemia; CSF, cere- brospinal fluid; NMDA, N-methyl-D-aspartate; EEG, electroen- cephalography; DM, dextromethorphan.. Nonketotic hyperglycinemia (NKH) is a rare [r] ...
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Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
... Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by the defects in the glycine cleavage system (GCS; EC 2.1.2.10), a multienzyme system that consists of four individual ...
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Attempts at Use of Strychnine Sulfate in the Treatment of Nonketotic Hyperglycinemia
... strychnine as a glycine antagonist in the mammalian spinal cord. Gitzelmann R, Steinmann B, Otten A, et al: Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagon[r] ...
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Efficacy of Tryptophan for the Treatment of Nonketotic Hyperglycinemia: A New Therapeutic Approach for Modulating the N-Methyl-D-aspartate Receptor
... NKH, nonketotic hyperglycinemia; NMDA, N-methyl-o-aspartate; CSF, cerebrospinal fluid; HPLC, high-per- formance liquid chromatography; 5-HIAA, 5-hydroxyindoleacetic acid; HVA, homovanill[r] ...
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Defective glycine cleavage system in nonketotic hyperglycinemia Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein
... nonketotic hyperglycinemia was extremely low as compared with those of control human liver and brain. The activities of glycine decarboxylase (P-protein) and the aminomethyl carrier protein (H-protein), two ...
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Strychnine Therapy in Nonketotic Hyperglycinemia
... Gitzelmann R, Steinmann B, Otten A, et al: Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonist. Zuinwalt RW, Roach D, Gehrke CW: Gas-liquid chro- matography[r] ...
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Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations
... MR in four patients cases 2 and 5-7 10-38 months old revealed decreased or absent myelination of supratentorial white-matter tracts including the internal capsule, corpus callosum , coro[r] ...
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Nonketotic Hyperglycinemia: Treatment with Diazepam—A Competitor for Glycine Receptors
... plasma glycine levels and cause temporary improve- ment.2’ Strychnine, a potent glycine receptor antag- onist,22 has been tried with mixed results. Gitzel- mann et al” and Arneson et al’[r] ...
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Failure of Strychnine Treatment during the Neonatal Period in Three Finnish Children with Nonketotic Hyperglycinemia
... The favorable effect of sodium benzoate, re- ported in a number of patients with NKH, is most probably due to a lowering of plasma and to a limited extent a lowering of CSF-glycine level[r] ...
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Noninvasive detection of increased glycine content by proton MR spectroscopy in the brains of two infants with nonketotic hyperglycinemia
... The absolute concentration of glycine can be estimated using Cr as an internal standard: Assuming a Cr concentration in the brain of about 5 mmoi/L 5 .2 mmoi/L measured for a 6month-old [r] ...
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Clinical Reasoning: A 2-day-old baby girl with encephalopathy and burst suppression on EEG
... glucose was 102 mg/dL. The patient underwent lum- bar puncture for CSF examination; this revealed a white blood cell count of 3 cells/L, glucose of 54 mg/dL, and protein of 50 mg/dL. Results of blood and CSF cultures ...
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Chorea Hyperglycemia Basal Ganglia Syndrome in a 63-Year-Old Male
... Chorea hyperglycemia basal ganglia syndrome (CHBG) is a rare condition that manifests within the setting of uncontrolled nonketotic diabetes mellitus. The objective of this case report is to present a patient ...
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Treatment outcome and prognostic indices in patients with hyperglycemic emergencies
... hyperglycemic nonketotic state (HHNK) was seen in 50% (53) of the subjects, while diabetic ketoacidosis (DKA) was seen in 31% (29), normo-osmolar nonketotic hyperglycemic state (NNHS) in 12% (13), and mixed ...
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Epilepsy Aspects and EEG Patterns in Neuro Metabolic Diseases
... ketotic hyperglycinemia; B6: pyridoxine-dependent epilepsy; PNPO: pyridoxal phosphate deficiency; GLUT1: glucose transporter deficiency; MTHFR: methyltetrahydrofolate deficiency; SO: sulfite oxidase deficiency; ...
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HYPERGLYCINEMIA WITH KETOSIS DUE TO A DEFECT IN ISOLEUCINE METABOLISM: A PRELIMINARY REPORT
... Fibroblast incubation studies demon- strated normal CO2 production from la- belled propionic acid and methylmalonic acid but defective CO2 production from la- belled isoleucine, placing [r] ...
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IDIOPATHIC HYPERGLYCINEMIA AND HYPERGLYCINURIA: A NEW DISORDER OF AMINO ACID METABOLISM. I
... Concentrations in plasma and urinary excretion of glycine under conditions of increasing intake. of protein and daily administration of sodium benzoate[r] ...
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Hyperglycinemia V The Miscible Pool and Turnover Rate of Glycine and the Formation of Serine
... These data, as well as the similarity in glycine pool size and turnover under these different conditions, and the close similarity of serine concentrations in patient and controls render[r] ...
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Nonketotic Hyperglycemia Induced Occipital Lobe Seizures: a case report
... Typically, nonketotic hyperglycemia induces partial motor ...of nonketotic hyperglycemia induced occipital lobe seizures and discuss the impact of hemoglobin A1c on seizure activity, typical imaging ...
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Nonketotic Hyperosmolal Diabetic Coma in a Child: Management With Low-Dose Insulin Infusion and Intracranial Pressure Monitoring
... We report a case of nonketotic hyperosmolal diabetic coma in a 3#{189}-year-old child, who was successfully managed with low-dose in- sulin infusion and invasive intracranial pressure mo[r] ...
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Nonobese, Nonketotic Childhood-Onset Diabetes: Look for Lipodystrophies
... • Lipodystrophy, a genetically het- erogeneous group of disorders characterized by loss or abnormal distribution of adipose tissue and resultant metabolic dysfunction, is not uncomm[r] ...
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