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

Biotinidase deficiency--a treatable entity.

S Gulati1, G R Passi, A Kumar

  • 1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.

Indian Journal of Pediatrics
|August 10, 2000
PubMed
Summary

Biotinidase deficiency, a treatable cause of neurological symptoms, requires early diagnosis. Prompt biotin supplementation significantly improves clinical outcomes in affected children.

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

A simple radioassay for detection of antithyroglobulin autoantibodies.

The Indian journal of medical research·1992
Same author

An immunoradiometric assay for measurement of serum thyroglobulin.

The Indian journal of medical research·1992
Same author

Modification of radiosensitivity by the so-called tissue recovery stimulator. I. Radiosensitizing effects of solcoseryl.

Journal of radiation research·1992
Same author

Postnatal laminar development of cholinergic receptors, protein kinase C and dihydropyridine-sensitive calcium antagonist binding in rat visual cortex. Effect of visual deprivation.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience·1992
Same author

Cerebral glucose metabolic rates after 30 and 45 minute acquisitions: a comparative study.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine·1992
Same author

Resolution of dihydroxyeicosanoates and of dihydroxyeicosatrienoates by chiral phase chromatography.

Analytical biochemistry·1992

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • Biotinidase deficiency is a recognized inherited metabolic disorder.
  • It leads to progressive neurological deterioration if untreated.
  • Early diagnosis and treatment are crucial for preventing irreversible damage.

Observation:

  • The patient presented with seizures, encephalopathy, developmental delay, rash, and alopecia.
  • Metabolic investigations revealed acidosis, elevated lactate, ketonuria, and a positive DNPH test.
  • Urinary organic acid profiling confirmed biotinidase deficiency.

Findings:

  • Clinical symptoms strongly suggested biotinidase deficiency.
  • Biochemical tests provided key diagnostic clues.
  • Genetic confirmation via enzyme assay is the gold standard.

Related Experiment Videos

Implications:

  • Highlights the importance of recognizing clinical signs for early diagnosis.
  • Emphasizes biotin supplementation as an effective treatment.
  • Underscores the need for increased awareness among clinicians for timely intervention.