Maple syrup urine disease in Brazil: a panorama of the last two decades
Journal Title: Jornal de Pediatria - Year 2015, Vol 91, Issue 3
Abstract
Objective To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. Methods In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. Results Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57–7). Median age at onset of symptoms was 10 days (IQR 5–30), whereas median age at diagnosis was 60 days (IQR 29–240, p=0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n=12) and without (n=71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. Conclusion In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.
Authors and Affiliations
Ida Schwartz
Keywords
Related Articles
- EP ID EP558457
- DOI 10.1016/j.jped.2014.08.010
- Views 62
- Downloads 0
Microcephaly and Zika virus
The original isolation of the Zika virus (ZIKV), a Flavivirus member of the Flaviviridae family, was obtained in 1947 from the blood of a febrile rhesus monkey exposed at the Zika forest near Lake Victoria, in the outski...
The protective arm of the renin–angiotensin system may counteract the intense inflammatory process in fetuses with posterior urethral valves
Objective Posterior urethral valve is the most common lower urinary tract obstruction in male children. A high percentage of patients with posterior urethral valve evolve to end-stage renal disease. Previous studies show...
Equations based on anthropometry to predict body fat measured by absorptiometry in schoolchildren and adolescents
Objective To develop and validate equations to estimate the percentage of body fat of children and adolescents from Mexico using anthropometric measurements. Methods A cross-sectional study was carried out with 601 chil...
Optimizing bone health in Brazilian teens: using a population-based survey to guide targeted interventions to increase dietary calcium intake
Calcium is necessary for bone health, cardiovascular function, nerve conduction, muscle contraction, and hemostasis. Calcium is the most abundant mineral found in the body and 99% of total body calcium is found in the sk...
Prevalence of excessive screen time and TV viewing among Brazilian adolescents: a systematic review and meta-analysis
Purpose To evaluate the prevalence of excessive screen-based behaviors among Brazilian adolescents through a systematic review with meta-analysis. Data source Systematic review and meta-analysis were recorded in the Int...