Here we look at incidences of three branched chain intoxication type disorders, maple syrup urine disease, propionic acidemia and methylmalonic aciduria based on newborn screening data from three different countries. NBS results also provide an opportunity to look at incidence across several populations which can be useful to understanding their differences, but also limited by the manner the information is reported. Moreover, several studies have shown NBS improves outcomes, ,, ]. Newborn screening (NBS) has been used to identify individuals with a number of inherited metabolic disorders with the goal that early treatment prior to symptoms will improve outcomes. The intoxication-type branched chain inherited metabolic disorders, maple syrup urine disease, propionic acidemia and methylmalonic aciduria can be life-threatening if left untreated. However, different sample sizes of the populations screened over different time periods, and differences in case definitions for methylmalonic acidurias have to be considered when interpreting these data. This evaluation of newborn screening incidences reflects some population differences for three intoxication-type metabolic disorders. Combined evaluation of methylmalonic aciduria, propionic aciduria and combined remethylation disorders results in a similar incidence for Germany of 1:67539. In the United States several newborn screening laboratories combine their results for propionic acidemia and methylmalonic aciduria, and also include combined remethylation disorders in the respective category, resulting in an incidence of 1:50709. Incidence of isolated methylmalonic aciduria alone is 1:69354 in the United States, 1:568901 in South-West Germany (Germany nationwide 1:159199) and 1: 19809 in Kuwait. Incidence of propionic acidemia alone is calculated to be 1: 242741 in the United States, 1: 284450 in South-West Germany (Germany nationwide 1:202617) and 1:59426 in Kuwait. Maple syrup urine disease incidence in the United States was calculated to be 1: 220219, in South-West Germany 1: 119573 (Germany nationwide 1:177978), and in Kuwait 1: 59426. Here newborn screening results from three world regions, state screening laboratories in the United States, a region in Germany and Kuwait provides new incidence numbers. Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
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