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Related Concept Videos

Encephalitis l: Introduction01:19

Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
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DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
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Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Encephalitis ll: Pathophysiology01:26

Encephalitis ll: Pathophysiology

Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
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A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...

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Infantile mitochondrial encephalopathy.

Graziella Uziel1, Daniele Ghezzi, Massimo Zeviani

  • 1Unit of Child Neurology, The 'Carlo Besta' Neurological Institute Foundation (IRCCS), via Celoria 11, 20133 Milan, Italy.

Seminars in Fetal & Neonatal Medicine
|May 31, 2011
PubMed
Summary
This summary is machine-generated.

Genetic inborn errors of metabolism (IEM) cause significant early-onset encephalopathy. Mitochondrial disease, a frequent cause of IEM encephalopathy, involves faulty energy supply from mitochondrial respiratory chain defects.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • Genetic inborn errors of metabolism (IEM) are individually rare but collectively significant causes of early-onset encephalopathy.
  • Prompt diagnosis of IEM is critical for appropriate investigation and potential therapeutic intervention.
  • Advances in technology and biochemical knowledge aid in diagnosing these genetic defects.

Purpose of the Study:

  • To highlight the diagnostic challenges posed by rare and heterogeneous IEM encephalopathies.
  • To emphasize the importance of early diagnosis in managing these conditions.
  • To identify the most frequent cause of IEM encephalopathy in children.

Main Methods:

  • Review of current literature on inborn errors of metabolism and encephalopathy.
  • Analysis of diagnostic approaches and technological advancements.
  • Identification of common etiological factors in childhood IEM encephalopathy.

Main Results:

  • Inborn errors of metabolism (IEM) represent a substantial cause of early-onset encephalopathy.
  • Mitochondrial disease is the most common cause of childhood IEM encephalopathy.
  • Faulty energy supply due to mitochondrial respiratory chain defects characterizes these conditions.

Conclusions:

  • IEM encephalopathies remain a diagnostic challenge due to their rarity and heterogeneity.
  • Early diagnosis and understanding of biochemical/molecular bases are crucial for effective management.
  • Mitochondrial respiratory chain defects are a primary target for investigation in suspected IEM encephalopathy.