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Related Concept Videos

Inborn Errors of Metabolism01:20

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
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Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
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Inborn errors of metabolism causing epilepsy.

Shamima Rahman1, Emma J Footitt, Sophia Varadkar

  • 1Clinical and Molecular Genetics and Neurosciences Units, University College London Institute of Child Health, London and Metabolic and Neurosciences Units, Great Ormond Street Hospital for Children NHS Trust, London, UK. shamima.rahman@ucl.ac.uk

Developmental Medicine and Child Neurology
|September 25, 2012
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Summary
This summary is machine-generated.

Seizures can signal inborn errors of metabolism (IEMs), especially in newborns. This review guides diagnosis and treatment for IEMs presenting with seizures, focusing on conditions with available therapies.

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Area of Science:

  • Metabolic disorders
  • Neurology
  • Pediatrics

Background:

  • Seizures are a primary symptom in some inborn errors of metabolism (IEMs).
  • Other IEMs manifest with seizures after initial symptoms like reduced consciousness or developmental regression.
  • This review focuses on IEMs with available specific treatments.

Purpose of the Study:

  • To review inborn errors of metabolism (IEMs) that present with seizures.
  • To correlate age at presentation with common metabolic causes of seizures.
  • To guide diagnosis of IEMs with specific treatments.

Main Methods:

  • Literature review of IEMs presenting with seizures.
  • Analysis of clinical features, imaging, and biochemical investigations.
  • Focus on disorders with established therapeutic interventions.

Main Results:

  • Metabolic causes of seizures vary significantly with patient age.
  • Clinical history, examination, imaging, and initial biochemical tests offer diagnostic clues.
  • Specific diagnostic tests are crucial for identifying treatable IEMs.

Conclusions:

  • Early recognition of seizures as a symptom of IEM is critical.
  • A systematic approach integrating clinical and biochemical data aids diagnosis.
  • Prompt diagnosis enables timely initiation of specific treatments for better outcomes.