Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
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...
Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Spanish consensus statement on the diagnosis and treatment of sialorrhoea in children with cerebral palsy.

Neurologia·2026
Same author

['Molar tooth' sign].

Anales de pediatria (Barcelona, Spain : 2003)·2011
Same author

[Neurological dysfunction induced by bilirrubin].

Neurologia (Barcelona, Spain)·2010
Same author

Postencephalitic chronic granulomatous disease.

Pediatric neurology·2006
Same author

[Epilepsy in a school-aged child with refractory crises worsening despite medication].

Anales de pediatria (Barcelona, Spain : 2003)·2005
Same author

[Global transitory amnesia: an adult disorder also present in childhood].

Anales de pediatria (Barcelona, Spain : 2003)·2003
Same journal

[Subacute meningoencephalitis following intravesical BCG instillation immunotherapy].

Anales del sistema sanitario de Navarra·2026
Same journal

[Treatment with dabrafenib and trametinib in an intrahepatic cholangiocarcinoma harboring a BRAF V600E mutation].

Anales del sistema sanitario de Navarra·2026
Same journal

[Efficiency after integrating a hospital with a 'new management model'].

Anales del sistema sanitario de Navarra·2026
Same journal

[Anales del Sistema Sanitario de Navarra in 2025: Progress continues].

Anales del sistema sanitario de Navarra·2026
Same journal

Qualitative evaluation of a community intervention in educational centres: Opinion of the professionals involved.

Anales del sistema sanitario de Navarra·2026
Same journal

[Unequal impact of COVID-19 on mortality in long-term care homes across health areas of Castilla-La Mancha (Spain)].

Anales del sistema sanitario de Navarra·2026
See all related articles

Related Experiment Video

Updated: Jun 28, 2026

A Zebrafish Model of Diabetes Mellitus and Metabolic Memory
10:03

A Zebrafish Model of Diabetes Mellitus and Metabolic Memory

Published on: February 28, 2013

[Adult-onset metabolic diseases].

A García Ribes1, Mj Martínez González, A García Cazorla

  • 1Servicio de pediatría, Hospital de Cruces, Barcaldo, 48903, Spain. agarcia.ribes@hcru.osakidetza.net

Anales Del Sistema Sanitario De Navarra
|November 26, 2008
PubMed
Summary
This summary is machine-generated.

Inborn errors of metabolism (IEM) can manifest in adults, often presenting with neurological or hepatic symptoms. Early detection through laboratory tests is crucial for timely treatment and genetic counseling.

More Related Videos

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

Related Experiment Videos

Last Updated: Jun 28, 2026

A Zebrafish Model of Diabetes Mellitus and Metabolic Memory
10:03

A Zebrafish Model of Diabetes Mellitus and Metabolic Memory

Published on: February 28, 2013

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Context:

  • Inborn errors of metabolism (IEM) are often diagnosed in childhood, but can present in adolescence and adulthood.
  • Prevalence data for adult-onset IEM is limited due to underdiagnosis and perception of rarity.
  • Adult-onset IEM diagnosis is critical for therapeutic intervention and family genetic counseling.

Purpose:

  • To provide a practical approach for identifying common adult-onset IEMs.
  • To outline the general characteristics and clinical clues for suspecting IEMs in adults.
  • To emphasize the importance of early diagnosis for acute presentations.

Summary:

  • Adult-onset IEMs typically present with neurological or hepatic symptoms, with two main onset patterns: acute (e.g., coma, altered consciousness) and insidious (progressive chronic symptoms).
  • Common causes of acute onset include urea cycle deficits, homocysteine remethylation disorders, and porphyrias.
  • Examples of insidious onset IEMs include Wilson's disease, mitochondrial diseases, lysosomal storage disorders, Refsum's disease, and glycogenosis.
  • Prompt laboratory investigations (ammonia, homocysteine, lactate, etc.) are vital for diagnosing acute IEM emergencies and initiating intensive treatment.

Impact:

  • Facilitates timely diagnosis and management of potentially life-threatening IEMs in adults.
  • Improves patient outcomes by enabling early intervention and preventing mortality in acute cases.
  • Supports informed family genetic counseling by identifying specific IEMs and their inheritance patterns.