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 Experiment Videos

Multiple carboxylase deficiency.

W L Nyhan1

  • 1University of California San Diego, La Jolla 92093.

The International Journal of Biochemistry
|January 1, 1988
PubMed
Summary
This summary is machine-generated.

Multiple carboxylase deficiencies are inborn errors of biotin metabolism affecting key enzymes. These disorders stem from defects in holocarboxylase synthetase or biotinidase, impacting biotin utilization.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia.

JIMD reports·2015
Same author

Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.

Journal of inherited metabolic disease·2009
Same author

Lesch-Nyhan disease.

Nucleosides, nucleotides & nucleic acids·2008
Same author

The spectrum of mutations causing HPRT deficiency: an update.

Nucleosides, nucleotides & nucleic acids·2004
Same author

Emergency management of inherited metabolic diseases.

Journal of inherited metabolic disease·2003
Same author

Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.

European journal of pediatrics·2001
Same journal

Intracellular localization of dinucleosideoligophosphate phosphorylase from Euglena gracilis.

The International journal of biochemistry·2010
Same journal

Specific phosphorylase from Euglena gracilis splits diadenosine 5',5'''-P(1),P(4)-tetraphosphate (Ap(4)A) and diadenosine 5',5'''-P(1),P(3)-triphosphate (Ap(3)A).

The International journal of biochemistry·2010
Same journal

Immunochemical homologies among L-alpha-hydroxyacid oxidase isozymes.

The International journal of biochemistry·2010
Same journal

Biochemical characterization of hemorrhagic toxin from Crotalus viridis viridis (prairie rattlesnake) venom.

The International journal of biochemistry·1994
Same journal

The 5'-sequence of the murine Hox-b3 (Hox-2.7) gene and its intron contain multiple transcription-regulatory elements.

The International journal of biochemistry·1994
Same journal

Characterization of human arylsulfatase A glycans.

The International journal of biochemistry·1994
See all related articles

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Multiple carboxylase deficiencies (MCD) are inherited metabolic disorders.
  • These conditions involve impaired biotin-dependent carboxylase enzyme activity.
  • Key affected enzymes include propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase, and pyruvate carboxylase.

Purpose of the Study:

  • To outline the two primary genetic defects causing multiple carboxylase deficiencies.
  • To differentiate between holocarboxylase synthetase deficiency and biotinidase deficiency.
  • To explain the biochemical consequences of these enzymatic defects on biotin metabolism.

Main Methods:

  • Review of existing literature on multiple carboxylase deficiencies.
  • Analysis of enzymatic assays for holocarboxylase synthetase and biotinidase.

Related Experiment Videos

  • Description of the molecular mechanisms underlying biotin metabolism defects.

    • Main Results:

    • Two distinct forms of MCD have been identified.
    • One form results from a defect in holocarboxylase synthetase, impairing apocarboxylase activation.
    • The second form is due to biotinidase deficiency, affecting biotin reutilization, digestion, and absorption.

    Conclusions:

    • Defects in holocarboxylase synthetase and biotinidase represent the main causes of multiple carboxylase deficiencies.
    • Understanding these distinct defects is crucial for diagnosis and management.
    • These findings highlight the critical role of biotin metabolism in cellular function.