# Spotlight on 2-Hydroxyglutaricaciduria: Rare Disease Day 2021
Rare Disease Day is observed on the last day of February every year to raise awareness amongst the general public, healthcare providers, and policymakers about rare & genetic diseases. It is estimated that 1 in every 17 people globally is affected by a rare disease, which amounts to roughly 400 million people in the world. Rare diseases often go unnoticed and undiagnosed, leading to delayed or inadequate treatment and an overall poor quality of life for patients and their families.
2-Hydroxyglutaricaciduria (2-HGA) is one such rare disease that affects the central nervous system and causes developmental delays, progressive neurological problems, and muscle weakness. In this article, we will explore the causes, symptoms, diagnosis, and treatment of 2-HGA in detail.
* Overview of 2-Hydroxyglutaricaciduria
* Causes of the Disease
* Symptoms of 2-Hydroxyglutaricaciduria
* Diagnosis of the disease
* Treatment for 2-Hydroxyglutaricaciduria
* Coping with the Disease
* Research and Future Developments
* Support Groups for 2-Hydroxyglutaricaciduria Patients & Families
## Overview of 2-Hydroxyglutaricaciduria
2-HGA is an inherited condition that affects the metabolism of certain amino acids in the human body. The name of the disease comes from the accumulation of 2-hydroxyglutaric acid (2-HG) in the body, which can be detected in the urine, blood, and other tissues of affected individuals. The disease is caused by a deficiency in one of the enzymes required to break down 2-HG, leading to its accumulation in the body.
2-HGA affects the central nervous system and can cause a wide range of symptoms, including developmental delays, intellectual disability, seizures, muscle weakness, spasticity, and vision and hearing problems. The severity of the symptoms can vary from person to person, even within the same family.
## Causes of the Disease
2-HGA is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. The exact genes responsible for the condition are not yet fully understood, but mutations in several genes, including D2HGDH, L2HGDH, and SLC25A1, have been identified as contributing factors.
## Symptoms of 2-Hydroxyglutaricaciduria
The symptoms of 2-HGA can vary widely depending on the age of onset and the severity of the disease. Some common symptoms include:
* Developmental delays such as delayed sitting, crawling or walking as an infant.
* Intellectual disability or struggling with academics as a child.
* Weakness and spasticity in the limbs leading to muscle twitches and contractions.
* Vision or hearing problems
* Difficulty with motor skills and coordination
* Movement disorders like dystonia, tics.
The disease progresses over time and can lead to severe disability and a poor quality of life.
## Diagnosis of the Disease
Diagnosing 2-HGA can be challenging due to its rarity and similarity to other neurological conditions. The diagnosis of the condition is based on the patient’s symptoms, family history, and specific diagnostic tests.
Some of the tests used to diagnose 2-HGA include:
* Blood and urine tests to measure the levels of 2-HG
* Magnetic Resonance Imaging (MRI) of the brain to detect specific abnormalities
* Genetic testing to identify any mutations in the genes responsible for the condition.
## Treatment for 2-Hydroxyglutaricaciduria
Currently, there is no cure for 2-HGA. The treatment options available to patients focus on managing the symptoms and improving the quality of life. Some of the treatment methods include:
* Physical therapy to improve mobility and strength
* Medications to control seizures and muscle spasms
* Special education programs for those struggling with intellectual disabilities
* Speech therapy to improve communication
* Vision and hearing aids where needed.
## Coping with the Disease
Living with a rare disease like 2-HGA can be challenging for both the patient and their family. It is important to seek emotional, social, and financial support. Joining support groups can be an excellent way to connect with other families and learn more about the disease.
## Research and Future Developments
Researchers are studying the genes responsible for 2-HGA to better understand the disease’s underlying mechanism. Future developments may help identify new therapies, early diagnostic tests, and better treatment options for patients.
## Support Groups for 2-Hydroxyglutaricaciduria Patients & Families
There are several support groups, including the United Leukodystrophy Foundation, the National Organization for Rare Disorders (NORD), and the Foundation for Metabolic Disorders, specifically for families and patients affected with 2-HGA and other Leukodystrophy diseases. These organizations provide emotional support, counseling, advocacy, and information resources.
2-Hydroxyglutaricaciduria is a rare inherited disorder that affects the central nervous system and causes developmental delays, intellectual disability, and muscle weakness. Diagnosis can be challenging due to the rarity of the disease and its similarity to other neurological conditions. While there is currently no cure, treatment options for the disease focus on managing symptoms and improving the quality of life of patients. Support groups can be an excellent way to connect with others, receive emotional support, and learn more about the disease.
1. How is 2-Hydroxyglutaricaciduria diagnosed?
Diagnosis involves a series of tests, including blood and urine tests, MRI of the brain, and genetic testing.
2. Is there a cure for 2-Hydroxyglutaricaciduria?
Currently, there is no cure for the disease. Treatment options aim to manage the symptoms and improve the quality of life of patients.
3. What are the most common symptoms of 2-Hydroxyglutaricaciduria?
The most common symptoms of 2-HGA include developmental delays, intellectual disability, seizures, muscle weakness, spasticity, and vision and hearing problems.
4. How does 2-Hydroxyglutaricaciduria affect daily life?
2-HGA can negatively impact daily life, depending on the severity of the symptoms. Treatment options like physical, occupational, and speech therapies, along with medication or special education programs, can improve the quality of life.
5. Are there any support groups for 2-Hydroxyglutaricaciduria patients and their families?
There are several support groups like the United Leukodystrophy Foundation and the National Organization for Rare Disorders (NORD) that provide emotional support, counseling, advocacy, and information resources to patients and their families.