Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Triple A syndrome--diagnostic and management issues.

Sunita Bijarnia¹, I C Verma

¹Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi.

Indian Journal of Pediatrics

|June 10, 2003

Summary

Triple A syndrome, a rare genetic disorder, affects families with affected children. Early diagnosis and genetic counseling are crucial for managing this condition and improving outcomes.

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

Organic Acidemias in India: Clinical and Molecular Spectrum.

Indian journal of pediatrics·2026

Same author

<i>CDKN1C</i> -Related Beckwith-Wiedemann Syndrome: First Patient from India.

Journal of pediatric genetics·2024

Same author

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Human genomics·2024

Same author

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

European journal of medical genetics·2022

Same author

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.

Indian journal of pediatrics·2022

Same author

Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.

Indian pediatrics·2022

Area of Science:

Genetics
Pediatrics
Rare Diseases

Background:

Triple A syndrome is a rare genetic disorder characterized by alacrity, achalasia, and albinism.
The genetic basis of Triple A syndrome was previously unknown, hindering diagnosis and treatment.
This study focuses on a family with multiple affected children, highlighting the hereditary nature of the condition.

Observation:

A family presented with three children affected by Triple A syndrome.
One child succumbed to the condition, while another was successfully treated due to early diagnosis.
A third child was born after the diagnosis in the second sibling, indicating potential for prenatal awareness.

Findings:

The specific gene responsible for Triple A syndrome has been successfully identified and cloned.
This genetic discovery provides a molecular basis for understanding the syndrome's pathophysiology.
The cloned gene enables accurate genetic testing for affected families.

Implications:

Genetic counseling is now essential for families with a history of Triple A syndrome.
Timely diagnosis and therapeutic interventions can significantly improve patient prognosis.
Understanding the genetic underpinnings facilitates the development of targeted therapies and improved patient care.

Related Experiment Videos