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

Pedigree Analysis01:35

Pedigree Analysis

Overview
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...
Sulfur Assimilation01:20

Sulfur Assimilation

Sulfur is an essential element in biological systems, contributing to synthesizing key biomolecules, including amino acids such as cysteine and methionine, and cofactors such as coenzyme A and biotin. Microorganisms primarily assimilate sulfur as sulfate (SO₄²⁻) from the environment, which must undergo a series of biochemical transformations before it can be incorporated into cellular components. As sulfate is highly oxidized, it must undergo assimilatory sulfate reduction to become...
Factors Affecting Drug Biotransformation: Biological01:19

Factors Affecting Drug Biotransformation: Biological

Biological factors significantly impact drug metabolism, influencing drug clearance, efficacy, and potential toxicity.
Species differences: Variations in enzyme systems across species can cause disparities in drug metabolism. For instance, humans may metabolize certain drugs faster than rodents, altering therapeutic effects.
Strain differences: Genetic variations within a species can result in differing enzyme activity, impacting drug response and toxicity. For example, some mouse strains may...
Drug Biotransformation: Overview01:16

Drug Biotransformation: Overview

Pharmaceutical substances known as xenobiotics are predominantly lipophilic and nonionized. This enables them to permeate lipid bilayers, such as cell membranes, and interact with intracellular target receptors. Lipophilic drugs have an advantage in crossing biological barriers and reaching their intended sites of action. However, lipophilic drugs often have a restricted capacity for renal expulsion or elimination from the body. When these drugs enter the kidneys and undergo glomerular...
Drug Biotransformation: Overview01:28

Drug Biotransformation: Overview

Biotransformation, also known as drug metabolism, is a vital physiological process that chemically alters drugs, facilitating their elimination from the body and terminating their action. This process involves two main phases: phase I and phase II reactions. Phase I reactions, including oxidation, reduction, and hydrolysis, introduce or unmask polar functional groups on the drug molecule, thereby increasing its water solubility. By enhancing water solubility, the drug becomes more hydrophilic...

You might also read

Related Articles

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

Sort by
Same author

Unbinding pathways and energetics of papaya-derived flavonoids as dengue MTase inhibitors via SMD-US and MMGBSA methods.

Journal of biomolecular structure & dynamics·2025
Same author

Naringenin and its structural analogues inhibit CDK2: a combined MD-MMGBSA and protein-ligand interaction study for colon cancer.

In silico pharmacology·2025
Same author

Primary Central Nervous System Vasculitis - Long Term Clinical Course and Treatment Response.

Neurology India·2025
Same author

Dual smart sensor data-based deep learning network for premature infant hypoglycemia detection.

Scientific reports·2025
Same author

Rituximab Related Reactivation of SARS-CoV-2 and Prolonged COVID-19 in a Person with Multiple Sclerosis.

Neurology India·2024
Same author

A real world multi center study on efficacy and safety of natalizumab in Indian patients with multiple sclerosis.

Multiple sclerosis and related disorders·2022

Related Experiment Video

Updated: May 17, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Biotin metabolism defect - A case report.

Ananth N Rao1, Rajesh B Iyer, J Kavitha

  • 1Metabolism Laboratory, Narayana Hrudayalaya, Bangalore, India.

Indian Journal of Clinical Biochemistry : IJCB
|October 30, 2012
PubMed
Summary
This summary is machine-generated.

Holocarboxylase synthetase deficiency, a biotin metabolism disorder, can present atypically. Early biotin supplementation improved a 9-year-old girl

Keywords:
Autosomal recessiveBiotin MetabolismHolocarboxylaseInherited disorder

More Related Videos

In Vitro Biochemical Assays using Biotin Labels to Study Protein-Nucleic Acid Interactions
08:14

In Vitro Biochemical Assays using Biotin Labels to Study Protein-Nucleic Acid Interactions

Published on: July 17, 2019

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Related Experiment Videos

Last Updated: May 17, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

In Vitro Biochemical Assays using Biotin Labels to Study Protein-Nucleic Acid Interactions
08:14

In Vitro Biochemical Assays using Biotin Labels to Study Protein-Nucleic Acid Interactions

Published on: July 17, 2019

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Biotin metabolism defects primarily involve Biotinidase or Holocarboxylase synthetase enzymes.
  • These defects impair cellular biotin utilization, leading to various health issues.
  • Holocarboxylase synthetase deficiency is an autosomal recessive inherited disorder.

Purpose of the Study:

  • To report a case of Holocarboxylase synthetase deficiency with atypical symptoms in a pediatric patient.
  • To highlight the diagnostic challenges and treatment response in a rare metabolic disorder.

Main Methods:

  • Case presentation of a 9-year-old girl with unusual clinical manifestations.
  • Biochemical analysis including assessment of propionic and methyl malonic acid excretion.
  • Evaluation of Biotinidase enzyme activity.

Main Results:

  • The patient exhibited increased excretion of propionic and methyl malonic acids.
  • Biotinidase activity was within the normal range, suggesting an alternative metabolic defect.
  • Significant clinical improvement was observed following biotin supplementation.

Conclusions:

  • Holocarboxylase synthetase deficiency can manifest with atypical symptoms, complicating diagnosis.
  • Normal Biotinidase activity does not exclude biotin metabolism disorders.
  • Prompt biotin supplementation is crucial for managing Holocarboxylase synthetase deficiency and improving outcomes.