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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Inherited organic acidemias are a group of metabolic disorders currently being described and investigated as gas-liquid chromatography is applied to unexplained diseases of infancy and childhood. Common clinical presentations include attacks of ketoacidosis, unexplained metabolic acidosis, failure of normal development, seizures, and other neurologic abnormalities. Hyperglycinemia, hyperammonemia, and hypoglycemia are other laboratory findings frequently present. Diagnosis depends on examination of urine, and sometimes blood, by gas-liquid chromatography to measure concentrations of organic acids and organic acid derivatives. Prognosis in many cases is excellent if diagnosis is made promptly and the metabolic acidosis can be reversed. Recovery from neurologic deficits has frequently been seen. Long-term therapy is generally dependent on restricting precursors of the toxic organic acid which builds up as a consequence of the enzyme deficiency. If there is some enzyme activity retained or if alternate metabolic pathways exist, success with therapy is likely.
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PMID:Organic acidemias. 0 30

4 cases of nonketotic hyperglycinemia (glycine encephalopathy), one with autopsy, are presented and the literature on 61 cases is reviewed. Major clinical signs include early hypotonia, lethargy and erratic and massive myoclonias with respiratory distrubances, starting during the first days of life after a symptom-free interval. Early death is common. Survivors are severely retarded and exhibit various types of seizures including infantile spasms. The EEG pattern consists initially of periodical paroxysmal bursts on an almost flat tracing, evolving later into a hypsarrhythmic pattern. Spongiosis of the myelinated pathways is the main pathological finding. Elevated CSF glycine seems to be the essential determinant of the neurological disturbances and it is, therefore, suggested that the term glycine encephalopathy be used instead of non-ketotic hyperglycinemia. A classification of disorders associated with hyperglycinemia is proposed.
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PMID:Glycine encephalopathy. 58 64

Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.
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PMID:Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis. 113 51

We describe two siblings who presented with lethargy, decreased sucking, respiratory failure and seizures in their first days of life. Pin-point pupils were noted in both siblings. Amino acid analysis revealed elevated concentrations of glycine in plasma and cerebrospinal fluid (CSF), with abnormal CSF/plasma ratios, compatible with hyperglycinemia. Urine organic acid analysis was unremarkable. Hyperammonemia was found in both siblings, but this subsided within 24-72 h. We suggest that pin-point pupils may be an additional presenting sign of nonketotic hyperglycinemia and, if looked for early enough, hyperammonemia may be found in this disorder.
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PMID:Nonketotic hyperglycinemia presenting with pin-point pupils and hyperammonemia. 155 2

We diagnosed a 22-year-old man with psychomotor retardation, rare seizures, hyperglycinemia, and hyperglycinuria as an atypical variant of nonketotic hyperglycinemia (NKH). Despite this clinical phenotype and a CSF/plasma ratio confirming a mild variant, measurement of hepatic glycine cleavage activity and the P-protein component indicated the more severe neonatal variant.
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PMID:Nonketotic hyperglycinemia: studies in an atypical variant. 246 75

Two patients with neonatal seizures and subsequent normal neurological development were found to have nonketotic hyperglycinemia. In both patients, hyperglycinemia resolved at 6 weeks of age. After cerebrospinal fluid glycine levels were normalized, the seizures stopped completely in one child and were markedly improved in the other. The possible mechanisms for the hyperglycinemia are discussed.
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PMID:Transient neonatal hyperglycinemia. 291 71

A mentally retarded girl with epileptic seizures is described. Urinary organic acid screening revealed a massive excretion of glyceric acid, a normally barely detectable metabolite. Hyperglycinemia was not observed. Capillary gas chromatography of the O-acetylated (-)-menthyl ester of urinary glyceric acid showed the substance to have the D-configuration. The urinary D-glycerate excretion remained unaltered after an oral load with 200 mg/kg L-serine, but oral loading with fructose (1 g/kg) or dihydroxyacetone (1 g/kg) caused a sharp increase of the D-glycerate excretion. Treatment with a diet moderately restricted in fructose led to some clinical improvement as judged by subjective criteria. The metabolic lesion is thought to be located at some step of the fructose catabolic pathway, possibly at the level of hepatic triokinase deficiency.
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PMID:D-glyceric acidemia: an inborn error associated with fructose metabolism. 358 91

Three cases of ketotic hyperglycinemia are described. Spongy encephalopathy was present in white as well as gray matter. The cell type that predominantly exhibited swelling was the astrocyte. Glycine binding is required for activation of the NMDA receptor. By constant excitation a surplus of glycine could disturb the ion balance. This might provide the pathogenetic principle of seizures and cytotoxic edema in hyperglycinemia.
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PMID:Spongy encephalopathy in ketotic hyperglycinemia. 769 92

We report a 38-year-old woman with a mild form of hyperglycinemia complicated with optic nerve atrophy and convulsion. She was normal at birth and showed normal mental and physical development. After the age of 13, her visual acuity rapidly decreased. At the age of 33, she had numerous episodes of tonic seizures lasting for 1-2 minutes. She had optic atrophy, but no intellectual impairment. Glycine levels of the plasma, urine and cerebrospinal fluid were markedly increased, but the CSF/serum glycine ratio was slightly higher than the normal range. Although there is one case of retinal impairment of hyperglycinemia in the literature, this is the first report of blindness with hyperglycinemia in a 38-year-old woman.
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PMID:Blindness due to non-ketotic hyperglycinemia: report of a 38-year-old, the oldest case to date. 831 63

Amino acid levels in plasma were measured by amino acid autoanalyser in 130 convulsive children. The levels of taurine, serine and tryptophan were significantly lower in convulsive children as compared to normal control; in contrast, isoleucine, homocystine, GABA, histidine, arginine and ammonia were higher. The children with paroxysmal disorders (headache, dizziness and abdominal epilepsy) had the highest levels of isoleucine, histidine and arginine and the lowest levels of glutamate and cystein. Clinical seizure activity within 6 months prior to the test seemed to have no obvious effect on the plasma amino acid pattern, except for the levels of glycine and arginine tended to return to normal, and the level of GABA was significantly increased in patients with the seizure being controlled. The patients treated with carbamazepin as a single anticonvulsant had the highest GABA level compared to those with other anticonvulsants. Hyperglycinemia and hyperammonaemia were also noted in patients who took valproic acid. The levels of serine, isoleucine and phenylalanine in the CSF within 6 hours after convulsion were significantly lower than the normal control; while asparagine, tyrosine, lysine and arginine were significantly higher. The concentration of ammonia in the CSF was also elevated after convulsion as compared to the normal control. Amino acids play an important role in the generation of epilepsy and recently there has been an increasing number of studies to help determine their effects during an epileptic attack. However, there still is much debate and controversy on this topic. Therefore, further studies are needed and researchers should carefully consider factors that might affect the accurate assessment of the results.
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PMID:Alteration of amino acid in plasma and cerebrospinal fluid of children with seizure disorders. 851 Jan 96


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