Infectious complications of propionic acidemia in Saudia Arabia

Abstract

A retrospective study of 38 patients with propionic acidemia indicates a high frequency of infections; affecting 80% of such patients. The Saudi Arabian population studied is a product of consanguineous marriages, and presents with a severe phenotype. Most microorganisms implicated are unusual, which suggests an underlying immune deficiency. These frequent infections occur despite aggressive treatment with appropriate diets, carnitine and during acute episodes of the disease with metro‐nidazole, which suggests a global effect of the disease on T and B lymphocytes as well as on the bone marrow cells. Any patient with propionic acidemia should be closely followed up for an intercurrent infection in association with acute metabolic decompensation.

Evaluation of Phagocytic Component of the Immune System in Patients with Organic Acidemia

“…According to multiple reports of infections caused by different pathogens in patients with organic acidemia, there is a possibility of accompanying immunodeficiency; therefore, exploring the components of the immune system seems valuable (6)(7)(8)(9)(10). According to a guideline presented in 2014, evaluation of serum C-reactive protein and blood culture is essential in the acute phase of these diseases, as the patients are often immunocompromised (11).…”

Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia

“…This heterogeneity in metabolic presentation occurs due to inhibition of enzymes of tricarboxylic acid (TCA), urea cycle and other pathways by intra-mitochondrial accumulation of propionyl-CoA and metabolites [1]. In addition, immune suppression with predisposition to sepsis with unusual organisms is also seen in PA with misdiagnosis as immunodeficiency disorder [2,3]. We report on an infant with PA who presented with failure to thrive, acute encephalopathy due to severe hyperammonemia without acidosis and fungal sepsis and discuss the biochemical basis for this heterogeneity.…”

Acidemia orgánica (propiónica) en un neonato detectada por espectrometría de masas en tándem

“…La prevalencia informada en los Estados Unidos es de un caso por cada 35.000 a 75.000 habitantes, pero podría ser mayor puesto que muchas muertes neonatales pueden deberse a acidopatías sin diagnosticar (2). Se encuentra una incidencia aumentada en Groenlandia (5) y, también, en Arabia Saudita a causa de los matrimonios entre parientes (6).…”