dicarboxylic aminoaciduria

Dicarboxylic aminoaciduria is a metabolic condition that disrupts normal amino acid transport, leading to imbalances detectable from infancy. It is associated with alterations in the SLC1A1 gene, a key component in the handling of amino acids. Affected infants commonly experience low blood sugar and abnormal amino acid profiles, with some cases also displaying intellectual challenges. Although precise prevalence data is not available, the condition is recognized in clinical settings based on its characteristic biochemical findings.

The clinical presentation of dicarboxylic aminoaciduria in affected infants includes low blood sugar (hypoglycaemia) and a consistent finding of aspartic aciduria, which reflects the disrupted amino acid transport. In some individuals, hyperprolinaemia and intellectual deficits have been noted, and a proportion of patients may develop kidney stones (nephrolithiasis). Not all individuals experience every feature, and severity varies considerably.

This condition arises from changes in the SLC1A1 gene, which plays an important role in transporting amino acids across cell membranes. It is inherited in an autosomal recessive pattern, meaning that an affected individual has received one altered copy of the gene from each parent. As a result, families with a history of this condition are encouraged to seek genetic counseling to better understand the implications for current and future family members.

Currently, management focuses on supportive care and symptom management, as no treatments are specifically approved for dicarboxylic aminoaciduria. Therapeutic strategies are individualized and typically involve a multidisciplinary team to address issues like hypoglycaemia and metabolic imbalances, as well as to support developmental needs. Patients and their families should discuss treatment options with their healthcare team and consider genetic counseling to guide management and family planning.

Outcomes for individuals with dicarboxylic aminoaciduria vary considerably and depend on factors such as the severity of metabolic disturbances and the timeliness of supportive interventions. Many patients manage their symptoms effectively with current multidisciplinary care, though some may face challenges related to intellectual development or kidney complications. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with genetic counselors and support groups to receive guidance on managing the condition over time.