2-Hydroxyglutaric aciduria

A rare metabolic disorder

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2-Hydroxyglutaric aciduria is a rare metabolic disorder characterized by the accumulation of 2-hydroxyglutaric acid in the urine. This condition is caused by a deficiency in the enzymes responsible for the metabolism of 2-hydroxyglutarate, leading to its accumulation in the body.

Classification

2-Hydroxyglutaric aciduria is classified into three main types based on the specific form of 2-hydroxyglutarate that accumulates:

• L-2-hydroxyglutaric aciduria
• D-2-hydroxyglutaric aciduria
• Combined D-2- and L-2-hydroxyglutaric aciduria

Each type is associated with different genetic mutations and clinical presentations.

Genetics

The disorder is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition. The specific genes involved vary depending on the type of 2-hydroxyglutaric aciduria.

Autosomal recessive inheritance pattern.

Pathophysiology

In 2-hydroxyglutaric aciduria, the accumulation of 2-hydroxyglutarate interferes with normal cellular metabolism. This can lead to neurological symptoms due to the toxic effects of the metabolite on the central nervous system.

Clinical Features

The clinical presentation of 2-hydroxyglutaric aciduria can vary widely, but common symptoms include:

• Developmental delay
• Seizures
• Hypotonia
• Ataxia
• Intellectual disability

Diagnosis

Diagnosis is typically made through the detection of elevated levels of 2-hydroxyglutaric acid in the urine using gas chromatography-mass spectrometry (GC-MS). Genetic testing can confirm the specific type of 2-hydroxyglutaric aciduria by identifying mutations in the relevant genes.

Treatment

There is currently no cure for 2-hydroxyglutaric aciduria. Treatment is primarily supportive and may include:

• Anticonvulsants for seizure management
• Physical therapy to improve motor skills
• Occupational therapy

Prognosis

The prognosis for individuals with 2-hydroxyglutaric aciduria varies depending on the type and severity of the condition. Early diagnosis and supportive care can improve quality of life and outcomes.

Related pages

• Metabolic disorder
• Inborn error of metabolism
• Neurological disorder

Gallery

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  Structure of 2-hydroxyglutaric acid

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  2-Hydroxyglutaric aciduria
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  Autosomal recessive inheritance pattern