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maple syrup urine disease/seizures
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Thiamin-responsive maple syrup urine disease: seizures after 7 years of satisfactory metabolic control.
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[Increased mortality and disability in a cohort of Mexican children with maple syrup urine disease].
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BACKGROUND
Maple syrup urine disease (MSUD) is a genetic disorder that produces ketoacidosis crises and neurological complications often leading to death. The age of diagnosis and treatment determine a child's adequate and healthy outcome.
OBJECTIVE
Describe the characteristics of a pediatric
Cerebral palsy associated with maple syrup urine disease.
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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
Maple syrup urine disease: An uncommon cause for neonatal metabolic distress.
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Maple Syrup Urine Disease is an autosomal recessive disorder caused by a deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. This rare disorder represents one of the causes of acute neonatal illness which results in devastating disturbances of neurological development.
Pharmacological evidence that alpha-ketoisovaleric acid induces convulsions through GABAergic and glutamatergic mechanisms in rats.
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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
Anaesthetic management in maple syrup urine disease.
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Two children with maple syrup urine disease undergoing emergency and elective surgery are reported. The administration of ketamine to a 12-month-old boy without neurological problems and propofol infusion to a 5-year-old girl with a history of convulsions, was uneventful. We believe that a full
Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India.
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Maple syrup urine disease is a disorder of branched-chain keto acid metabolism. Three children were diagnosed with the intermediate form of maple syrup urine disease during routine evaluation of mental retardation. Clinical features were characterized by mental retardation, seizures, autistic
[Intermittent maple syrup urine disease in a 12-year-old boy: clinical aspects, diagnosis and treatment].
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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
Maple syrup urine disease: report of two cases.
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Two cases of maple syrup urine disease (MSUD) are reported. Case 1 was a 10-day-old male infant who had cyanotic episodes and recurrent generalized convulsions; the odor of burned sugar from the body and urine was also noted. Plasma and urine amino acid analysis disclosed a marked increase in the
Dihydrolipoamide Dehydrogenase Deficiency
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Clinical characteristics: The phenotypes of dihydrolipoamide dehydrogenase (DLD) deficiency are an overlapping continuum that ranges from early-onset neurologic manifestations to adult-onset liver involvement and, rarely, a myopathic
[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
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OBJECTIVE
To explore the clinical characteristics and the diagnostic method of maple syrup urine disease (MSUD).
METHODS
From January 2003 to December 2011, a total of 14 000 patients with suspected inherited metabolism diseases were tested. The blood levels of leucine and valine of these patients
Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.
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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
Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics
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Maple syrup urine disease, an inherited disorder of metabolism, is characterised by deficient activity of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD) enzyme, resulting in an accumulation of branched-chain amino acids. While it is classically diagnosed by the means of a neonatal
Maple syrup urine disease in Thai infants.
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Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched-chain amino acids (leucine, isoleucine and valine). Classic MSUD usually manifests in the neonatal
Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro.
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Maple syrup urine disease (MSUD) is an inherited aminoacidopathy caused by a deficiency in branched-chain α-keto acid dehydrogenase complex activity that leads to the accumulation of the branched-chain amino acids (BCAAs) leucine (Leu), isoleucine, and valine and their respective α-keto-acids,
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