D,L-2-hydroxyglutaric aciduria

D,L-2-hydroxyglutaric aciduria is a rare metabolic disorder that is present from birth. It affects how the body processes certain chemicals, leading to problems with brain development and muscle control. People with this condition often experience severe brain-related issues such as epileptic encephalopathy (a type of seizure disorder), respiratory difficulties, and significant delays in development. They may also have distinct facial features and abnormalities seen on brain imaging. This summary is based on current information from trusted sources.

Common signs of D,L-2-hydroxyglutaric aciduria include severe seizures, episodes of apnea (breathing difficulties), significant developmental delay or absent psychomotor development, marked low muscle tone (hypotonia), feeding challenges, poor growth (failure to thrive), and a lack of visual contact. There may also be abnormal findings in brain imaging, such as cerebral atrophy and changes in the shape or size of the brain structures.

This condition is an inborn error of metabolism, meaning it is present at birth due to changes in the body’s metabolic processes. A known gene associated with this condition is SLC25A1. Variations in this gene affect how cells process energy, which can lead to the signs and symptoms observed.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.