2-Hydroxyglutaric aciduria

2-Hydroxyglutaric aciduria is an inherited metabolic disorder that requires medical intervention. It involves defects in certain metabolic pathways in the body that prevent the body from breaking down certain amino acids, such as lysine and hydroxylysine, which in turn causes harmful buildup in the body. Because the underlying cause of the disease is an enzyme deficiency caused by a gene mutation, it may manifest in infancy. Patients may experience symptoms such as brain damage, abnormal muscle tone, and developmental delays, sometimes accompanied by vomiting and seizures.

The specific manifestations vary from person to person, but most patients develop symptoms shortly after birth. Because metabolic abnormalities can lead to the accumulation of toxic substances, common symptoms include feeding difficulties, decreased muscle tone, and delayed motor development. Laboratory tests usually detect specific metabolites in the urine to confirm the diagnosis. If not treated in time, it may affect the central nervous system and cause serious consequences.

For children with this disease, strict dietary management is required to reduce the chance of producing harmful metabolites. Typically, medical staff will recommend a low-protein diet and supplementation of specific nutrients. Early diagnosis and intervention can help relieve symptoms and help improve quality of life. If suspected symptoms are found, professional medical help should be sought as soon as possible for a comprehensive evaluation and appropriate treatment strategy.