Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A systematic clinical protocol was applied in 16 infants that suffered from infantile spasms (IS) in order to identify etiologic factors. A positive family history was present in 2/16 patients and relevant perinatal or postnatal pathology in 5/16. Psychomotor retardation and other seizures anteceded IS in 10/16 and 8/16 infants respectively. Physical and neurologic examination revealed microcephalia (4/16), dysmorphic features (2/16), hypopigmented skin lesions (1/16) and pyramidal syndrome (8/16). Neuroimaging technics yielded positive findings in 9/16 patients, diffuse or localized atrophy (7/16), porencephalic cysts (3/16), periventricular calcifications (1/16), callosal agenesis (1/16). Laboratory examination allowed diagnosis of two metabolic diseases: congenital hyperlactatemia an maple syrup urine disease. Two patients were classified as cryptogenetic and fourteen as symptomatic. Within the latter an etiologic factor was identified in 12/14. This study underlines the value of etiologic search in IS, because it may contribute substantially to specific treatment and genetic counselling.
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PMID:[Etiologic research in massive spasms]. 184 40

We reported a mild variant case of maple syrup urine disease. He was unable to walk alone at 2 years of age and developed seizures and intermittent ataxia at 5 years of age. Activity of 1-14C-leucine decarboxylase in fibroblasts revealed 40% of normal activity in the boy and 90% in the mother. MRI showed hypo-myelination of white matter and mild atrophy of brain stem and cerebellum. Dietary treatment was not effective for ataxia and brain atrophy.
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PMID:[A mild variant case of maple syrup urine disease]. 199 96

Little information is available on the effect produced by antiepileptic drugs on the serum beta-glucuronidase activity. According to recent findings, beta-glucuronidase serum levels are increased in patients with epilepsy just before the beginning of seizures and remain increased during several weeks; this it is suggested that determination of this enzyme could be important in the provision and the treatment of seizures. The purpose of the present study attempts to understand these changes. Our study was carried out on 49 adult healthy subjects and 48 adult epileptic patients receiving anticonvulsant therapies. Serum beta-glucuronidase activity was determined by a simplified procedure employing phenolphtalein glucuronic acid as substrate. The mean +/- SEM of serum beta-glucuronidase activity in treated patients (40.93 +/- 5.01 MSU/ml) was significantly higher than those of the healthy subjects (25.04 +/- 3.40 MSU/ml). In conclusion, the relationship between changes in serum enzyme activity, seizures and anticonvulsant therapies suggests that the determination of serum beta-glucuronidase activity presents a weak interest in predicting or treating seizures.
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PMID:[Serum beta-glucuronidase activity in patients with epilepsy]. 235 28

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism characterized by typical urine odor. The deficiency of branched-chain ketoacid decarboxylase enzyme is responsible for the clinical abnormalities. The classical disease usually manifests in the neonatal period with lethargy, refused feeding, seizures and death. Since 1984, at the Department of Pediatrics, Ramathibodi hospital, 2 patients with classical MSUD have been seen. The parents of one patient were relatives and already had 2 affected but undiagnosed daughters. Both patients had strong urine odor which was described as the odor of boiled Chinese herbal medicine. The first child died at 4 months old and the second was severely retarded at one year old. The importance of early diagnosis and genetic counselling are emphasized.
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PMID:Maple syrup urine disease: case report of 2 Thai infants. 273 31

Report of a case of Maple syrup urine disease in a female neonate, with diagnosis at 26th day of life. The neurological picture consisted of alternating periods of hyper with hypotonicity, seizures, lethargy, poor feeding and respiratory arrest. Demonstration of elevation of plasma branched-chain amino-acids, was the most widely available confirmatory test, and the therapy with MSUD resulted in improvement of the patient.
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PMID:[Leucinosis: study of a case]. 383 42

A variant form of maple syrup urine disease (grade II) in a twelve year old boy is reported. The clinical picture was characterized by seizure-like episodes of confusion and intermittent ataxia. The diagnosis was made by showing an increased excretion of branched-chain alpha-hydroxy acids as well as evaluated plasma concentrations of the branched-chain aminoacids and alpha-ketoacids. There was a decrease of leucine degradation in cultured fibroblasts to 5 to 6% of normal. The treatment with thiamine-hydrochlorid remained without any clinical or biochemical effect in our patient. Further neurologic symptoms during acute episodes of vomiting could be avoided by dietary protein restriction and early parenteral glucose supplementation.
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PMID:[Intermittent maple syrup urine disease in a 12-year-old boy: clinical aspects, diagnosis and treatment]. 663 15

Maple syrup urine disease (MSUD) is a rare heritable enzyme defect associated with mental retardation. A diet deficient in the branched-chain amino acids is essential for survival. Patients with MSUD are at risk of ketoacidotic metabolic crises brought on by catabolic states, including simple infection or fasting. Delayed diagnosis and therapy can predispose these patients to loss of the gag reflex, lethargy, seizures, and feeding problems. Ultimately, this may result in aspiration and respiratory arrest, which, in turn, can cause cerebral palsy. Of seven cases of MSUD reviewed at The Hospital for Sick Children, two developed spastic diplegic cerebral palsy because of these sequelae. These two patients are similar to other patients with cerebral palsy. Despite special diet, healing of surgical wounds and fractures in patients with MSUD is normal. Simple precautions allow uncomplicated surgery and recovery, even though catabolic states can easily trigger acute ketoacidotic metabolic crises in these patients. The patients with MSUD discussed did not have an increased risk of infection.
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PMID:Cerebral palsy associated with maple syrup urine disease. 710 73

Classical Maple Syrup Urine Disease (MSUD) is a disease of infancy which is an inherited disorder of metabolism of branched-chain amino acids (BCAA). The BCAA are normally transaminated to branched-chain keto acids (BCKA). However, the enzyme required to metabolize the BCKA is deficient, resulting in elevation of both, the BCAA and the BCKA. One of the BCAA (isoleucine) produces a metabolite that causes the urine to smell like maple syrup. The elevations of the BCAA and BCKA are associated with an acute, critical neurotoxic condition often prior to the age of two weeks. The clinical state, the electroencephalogram-(EEG), and plasma BCAA levels were evaluated in 26 patients with classical and variant MSUD. Patients were seen from the time of diagnosis, often within a week after birth, and some were followed clinically for more than 20 years while on specific diet therapy. They were monitored by plasma BCAA (leucine, isoleucine and valine) levels and a total of 101 EEGs were performed during different phases of their illness. During periods of acute metabolic decompensation, there were marked clinical symptoms of neurotoxicity including opisthotonos, seizures, and coma with elevated BCAA plasma levels. The EEGs revealed spikes, polyspikes, spike-wave complexes, triphasic waves, severe slowing and bursts of periodic suppression. Occasionally paradoxical EEG arousal was noted while the patient was lethargic. During asymptomatic periods when the plasma BCAA were at low or normal levels, EEG abnormalities occurred in patients with and without residual neurological deficit. These observations included rolandic sharp waves (comb-like rhythm) which were observed in 7 of 15 patients less than two months of age. Additionally, paroxysmal spike and spike-wave response to photic stimuli were observed in 9 of 17 patients. Loading tests were performed on three patients. Clinical and EEG changes were most marked after leucine. Less dramatic EEG changes also occurred with the other two BCAA loads but without clinical manifestations. Elevation of the appropriate BCAA plasma level occurred after each load. These studies and a review of the literature suggest that one component of the pathophysiological mechanism for the acute neurotoxic effects in this disorder is related to a defect in glutamate, glutamine and gamma-aminobutyric acid (GABA) production. The BCAAs are transaminated to BCKAs. Further metabolism of the BCKAs are blocked because of enzyme deficiency required for decarboxylation.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. 774 49

A case of Maple Syrup Urine Disease (MSUD) is presented with clinical signs and symptoms on admission resembling neonatal tetanus. Diagnosis had to be differentiated between MSUD and other metabolic disorders and neonatal infections (especially neonatal tetanus because of severe opisthotonos) and generalized seizures of the patient. Early diagnosis of the MSUD patient is very important for effective therapy and better long-term prognosis as well as genetic counselling and prenatal diagnosis for future pregnancies.
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PMID:A case of maple syrup urine disease misdiagnosed as tetanus neonatorum on admission. 809 79

Neurological dysfunction is common in patients with maple syrup urine disease (MSUD). However, the mechanisms underlying the pathophysiology of this disorder are poorly known. In the present study we investigated the effect of intrastriatal administration of the alpha-keto acids accumulating in MSUD on the behavior of adult rats. After cannula placing, rats received unilateral intrastriatal injections of alpha-ketoisocaproic acid (KIC, 8 micromol), alpha-ketoisovaleric acid (KIV, 8 micromol), alpha-keto-beta-methylvaleric acid (KMV, 6 micromol) or NaCl. KIV elicited clonic convulsions in a dose-response manner, whereas KIC and KMV did not induce seizure-like behavior. Convulsions provoked by KIV were prevented by intrastriatal preadministration of muscimol (46 pmol) and MK-801 (3 nmol), but not by the preadministration of DNQX (8 nmol). These results indicate that among the keto acids that accumulate in MSUD, KIV is the only metabolite capable of causing convulsions in the present animal model and indicates that KIV is an important excitatory metabolite. Moreover, the participation of GABAergic and glutamatergic NMDA mechanisms in the KIV-induced convulsant behavior is suggested, since KIV-induced convulsions are attenuated by muscimol and MK-801. The authors suggest that KIV may play an important role in the convulsions observed in MSUD, and highlight its relevance to the understanding of the pathophysiology of the neurological dysfunction of MSUD patients.
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PMID:Pharmacological evidence that alpha-ketoisovaleric acid induces convulsions through GABAergic and glutamatergic mechanisms in rats. 1124 16


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