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

Vitamins01:30

Vitamins

Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced in our...
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
The Citric Acid Cycle: Output01:28

The Citric Acid Cycle: Output

The citric acid cycle is termed an amphibolic pathway as it operates both anabolically and catabolically. The cyclic reactions balance the flux of the substrates to provide an optimal concentration of NADH and ATP to the cell.
Regulation of Citric Acid Cycle
The citric acid cycle is regulated in several ways, including feedback inhibition, regulation of enzyme activities, and associated anaplerotic or cataplerotic pathways.
The primary substrate of the TCA cycle—acetyl CoA—is produced by the...
Taste Buds and Receptors01:20

Taste Buds and Receptors

Gustation, or the sense of taste, is intrinsically linked to the anatomical structures located on the tongue. This organ's surface, along with the entirety of the oral cavity, is adorned with stratified squamous epithelium. Evident on the tongue are elevated structures known as papillae (singular = papilla), which house the mechanisms for the transduction of gustatory stimuli. Four distinct types of papillae exist, each identified by their unique morphological attributes: the circumvallate,...
Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...

You might also read

Related Articles

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

Sort by
Same author

Current status in paediatric liver transplantation for inherited metabolic diseases.

Journal of pediatric gastroenterology and nutrition·2026
Same author

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics.

Clinical genetics·2026
Same author

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal of inherited metabolic disease·2026
Same author

Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial disease.

Brain communications·2026
Same author

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathology.

Histopathology·2026
Same journal

Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.

Molecular genetics and metabolism·2026
Same journal

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Molecular genetics and metabolism·2026
Same journal

Driving treatment for females with X-linked adrenoleukodystrophy.

Molecular genetics and metabolism·2026
Same journal

High dietary fat causes muscle structural breakdown, mitochondrial dysfunction, and contractile deficits in the absence of carnitine palmitoyltransferase 2.

Molecular genetics and metabolism·2026
Same journal

Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data.

Molecular genetics and metabolism·2026
Same journal

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Molecular genetics and metabolism·2026
See all related articles

Related Experiment Video

Updated: Jun 27, 2026

Specific and Accurate Detection of the Citrus Greening Pathogen Candidatus liberibacter spp. Using Conventional PCR on Citrus Leaf Tissue Samples
09:23

Specific and Accurate Detection of the Citrus Greening Pathogen Candidatus liberibacter spp. Using Conventional PCR on Citrus Leaf Tissue Samples

Published on: June 29, 2018

Citrin deficiency, a perplexing global disorder.

David Dimmock1, Bruno Maranda, Carlo Dionisi-Vici

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA.

Molecular Genetics and Metabolism
|November 28, 2008
PubMed
Summary
This summary is machine-generated.

Citrin deficiency, a genetic disorder, is now recognized as a panethnic disease, not limited to East Asian ancestry. Mutations in SLC25A13 can cause varied symptoms, and diagnostic features may differ across populations.

More Related Videos

Automating Citrus Budwood Processing for Downstream Pathogen Detection Through Instrument Engineering
11:30

Automating Citrus Budwood Processing for Downstream Pathogen Detection Through Instrument Engineering

Published on: April 21, 2023

Related Experiment Videos

Last Updated: Jun 27, 2026

Specific and Accurate Detection of the Citrus Greening Pathogen Candidatus liberibacter spp. Using Conventional PCR on Citrus Leaf Tissue Samples
09:23

Specific and Accurate Detection of the Citrus Greening Pathogen Candidatus liberibacter spp. Using Conventional PCR on Citrus Leaf Tissue Samples

Published on: June 29, 2018

Automating Citrus Budwood Processing for Downstream Pathogen Detection Through Instrument Engineering
11:30

Automating Citrus Budwood Processing for Downstream Pathogen Detection Through Instrument Engineering

Published on: April 21, 2023

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Citrin deficiency, caused by SLC25A13 mutations, typically presents with neonatal cholestasis or adult-onset disease.
  • Previously, it was predominantly observed in individuals of East Asian descent.
  • A hallmark diagnostic feature was reduced argininosuccinate synthetase (ASS) activity in the liver, with normal activity in skin fibroblasts.

Observation:

  • This study analyzed 10 patients with suspected citrin deficiency, including those with elevated newborn screening citrulline levels.
  • Five novel mutations in the SLC25A13 gene were identified, including two founder mutations in French-Canadian patients.
  • Notably, these patients exhibited significantly reduced ASS activity in skin fibroblasts, contrasting with prior observations.

Findings:

  • Reduced argininosuccinate synthetase (ASS) enzyme activity was observed in skin fibroblasts of affected patients.
  • Western blot analysis for citrin protein showed reduced sensitivity for screening in some cases.
  • The identification of mutations in diverse ethnic groups (Arabic, Pakistani, French Canadian, Northern European) indicates citrin deficiency is a panethnic disorder.

Implications:

  • Citrin deficiency is a globally prevalent metabolic disorder, necessitating broader diagnostic considerations.
  • Diagnostic approaches for citrin deficiency may require re-evaluation, especially regarding fibroblast ASS activity and protein immunoblotting.
  • Understanding the panethnic nature of citrin deficiency aids in early diagnosis and management across diverse populations.