Altered immune response in organic acidemia.

Area of Science:

• Immunology
• Metabolic Disorders
• Pediatric Medicine

Background:

• Patients with organic acidemia (OA) frequently suffer from recurrent infections.
• While neutropenia is known, other immune system components in OA remain understudied.
• This research investigates the immune status of individuals with OA.

Purpose of the Study:

• To assess the immune status of patients diagnosed with organic acidemia.
• To identify specific immune system defects contributing to infection susceptibility in OA.
• To explore potential therapeutic avenues for improving immune function in OA patients.

Main Methods:

• A cohort of 33 patients with OA and 32 healthy controls were analyzed.
• Demographic and clinical data were retrospectively collected.
• Complete blood counts, immunoglobulin levels, and lymphocyte immunophenotyping were prospectively assessed during infection-free periods.

Main Results:

• The study included patients with methylmalonic acidemia, propionic acidemia, and isovaleric acidemia.
• OA patients exhibited significantly lower levels of naïve helper T cells and recent thymic emigrants.
• Defects in humoral immunity, including memory B cells and immunoglobulin levels, were observed in OA patients.

Conclusions:

• Organic acidemia patients may present with adaptive immune deficiencies, increasing infection risk.
• Nutritional modifications aimed at metabolic reprogramming show potential as future therapeutic strategies for OA.