Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Molecular Genetics and Metabolism Reports
Kimberly A ChapmanMarshall L Summar

Abstract

Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened. 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. 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. 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. 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. 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. Combined evaluation of methylmalonic aciduria, propionic aciduria and combined remethylation disorders results in a similar inciden...Continue Reading

Citations

Aug 7, 2018·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Kristen CritelliJames E Squires
Feb 15, 2019·Orphanet Journal of Rare Diseases·Tímea AlmásiTamás Zelei
Oct 22, 2019·Journal of Pediatric Gastroenterology and Nutrition·Sophoclis P AlexopoulosJustin Godown
Dec 18, 2019·Orphanet Journal of Rare Diseases·Yi-Zhou JiangLi-Ying Sun
Jan 25, 2020·Journal of Pediatric Gastroenterology and Nutrition·Sophoclis P AlexopoulosJustin Godown
Mar 5, 2021·Molecular Genetics and Metabolism Reports·Isis AtallahChristel Tran
Oct 15, 2020·International Journal of Molecular Sciences·Jing XuRebecca C Ahrens-Nicklas
Mar 21, 2021·Molecular Genetics and Metabolism·Allison J ArmstrongRobert A Figler

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