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Related Concept Videos

Cerebral Edema ll: Pathophysiology01:22

Cerebral Edema ll: Pathophysiology

Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
Cerebral Edema l: Introduction01:19

Cerebral Edema l: Introduction

Cerebral edema is a pathological increase in brain water content that disrupts intracranial pressure regulation and impairs neurological function. Because the cranial vault is rigid, even modest increases in tissue volume can compromise cerebral perfusion, distort neural structures, and initiate secondary injury. Cerebral edema develops through four principal mechanisms: vasogenic, cytotoxic, interstitial, and ionic.Vasogenic EdemaVasogenic edema arises from disruption of the blood–brain...
Cytotoxic Edema: Pathophysiology01:21

Cytotoxic Edema: Pathophysiology

Cytotoxic edema is a form of cerebral edema characterized by intracellular swelling of neurons, astrocytes, and other glial cells. It develops when the mechanisms responsible for maintaining ionic gradients across the cell membrane become impaired. Under normal physiological conditions, the sodium–potassium ATPase actively transports sodium ions out of the cell and potassium ions into the cell, preserving osmotic balance and enabling electrical signaling. This pump requires a continuous supply...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

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...
Dementia l: Introduction01:22

Dementia l: Introduction

Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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Updated: May 12, 2026

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function
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[Cerebral creatine deficiency syndromes].

Rui Malheiro1, Luísa Diogo, Paula Garcia

  • 1Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

Acta Medica Portuguesa
|March 29, 2013
PubMed
Summary

Cerebral creatine deficiency syndromes, caused by inborn errors in creatine metabolism, often present as neurodevelopmental disorders. Early diagnosis and treatment, particularly for guanidinoacetate methyltransferase (GAMT) deficiency, show promising results and support neonatal screening.

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Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function
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Quantitative Autoradiographic Method for Determination of Regional Rates of Cerebral Protein Synthesis In Vivo
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Quantitative Autoradiographic Method for Determination of Regional Rates of Cerebral Protein Synthesis In Vivo

Published on: June 28, 2019

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Context:

  • Creatine deficiency syndromes (CDS) are rare inherited metabolic disorders.
  • These syndromes result from genetic defects in creatine synthesis or transport.
  • Clinical manifestations include a spectrum of neurodevelopmental impairments.

Purpose:

  • To characterize the clinical and laboratory features of CDS patients.
  • To detail diagnostic approaches and treatment strategies for CDS.
  • To raise awareness of CDS among healthcare professionals.

Summary:

  • A retrospective analysis identified 12 patients with CDS (5 GAMT deficiency, 7 CT1 deficiency).
  • Global developmental delay was the most common presentation, observed in all patients.
  • Genetic mutations in GAMT or SLC6A8 were confirmed in all diagnosed individuals.

Impact:

  • Early detection and intervention, especially pre-symptomatic therapy for GAMT deficiency, improve outcomes.
  • The high carrier rate of GAMT mutations suggests eligibility for neonatal screening programs.
  • Increased awareness can lead to earlier diagnosis and better management of neurodevelopmental delays associated with CDS.