Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

OBJECTIVE: Organic acidurias (OAs) are a group of rare metabolic disorders that disrupt the regular amino acid metabolism. OAs are characterized by recurrent episodes of acidemia, ketonuria and hyperammonemia which can result in brain/liver damage and renal failure, and despite the life-long protein-restricted diet, impaired growth and long-term complications can occur. Consequently, a long-term management of OAs patients is required, aimed principally at reducing the frequency and duration of metabolic decompensation/hyperammonemia episodes. Nevertheless, unlike the acute phase, evidence on the chronic management of OAs patients is less consolidated. SUBJECTS AND METHODS: To expand the knowledge on this field, 13 Italian referral centers for the management of OAs were involved in a survey focused on the long-term use of carglumic acid (Carbaglu®, Recordati Rare Diseases). RESULTS: Participating centers reported a reduction between 69% and 81% in the annual number of metabolic decompensations with the chronic use of carglumic acid and an improvement in protein intake. Most centers reported no difficulty using carglumic acid as a long-term therapy, along with a great compliance. CONCLUSIONS: Taken together, obtained data align with the available literature and support a positive clinical experience with the long-term carglumic acid administration. Additional studies aimed at better defining a proper dosage for the chronic administration of carglumic acid and the clinical and biochemical characteristics of patients treated chronically are needed. In addition, the potential impact of this treatment regimen on the neurological development and growth of patients should be elucidated.

Serum levels of IL-17 in patients with vernal keratoconjunctivitis: a preliminary report.

BACKGROUND AND AIM: Vernal Keratoconjunctivitis (VKC) is a chronic and often severe form of bilateral tarsal and/or bulbar conjunctivitis. The purpose of the present study is to measure the Interleukin-17 (IL-17) serum levels in children with VKC evaluating the role of the systemic inflammation in patients affected by VKC. PATIENTS AND METHODS: Fifteen patients were enrolled with VKC aged between 6 and 10 years of life. Serum were obtained from the peripheral blood samples collected from all the children included in the study to evaluate serum level of IL-17. RESULTS: Serum levels of IL-17 were significantly higher in patients with VKC than in healthy controls (10.3 ± 9.36 pg/ml vs. 3.3 ± 6.20 pg/ml respectively; p < 0.04). CONCLUSIONS: The presence of a significantly higher level of IL-17 in patients with VKC suggests a possible role of this cytokine in the pathogenesis of VKC. Further studies on larger samples of patients are warranted to confirm These findings in order to identify new possible therapeutic targets.