Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
نویسندگان
چکیده
Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders neonatal vitamin B12 deficiency, report on the identification cofactor-responsive disease variants. This evaluation previously established combined multiple-tier algorithm is part prospective pilot study “NGS2025” from August 2016 September 2022. In 548,707 newborns, was applied led positive results in 458 them. Overall, 166 newborns (prevalence 1: 3305) were confirmed (positive predictive value: 0.36); specifically, acidurias (N = 5), acidemia 4), cystathionine beta-synthase (CBS) deficiency 1) 153). The majority identified asymptomatic at time first (total: 161/166, inherited metabolic diseases: 9/14, deficiency: 153/153). Three individuals (methylmalonic acidurias: 2, CBS 1), could be treated by B12, B6 respectively, only. conclusion, technically feasible, allows attenuated severe courses can considered evaluated inclusion national panels.
منابع مشابه
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.
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ژورنال
عنوان ژورنال: Nutrients
سال: 2023
ISSN: ['2072-6643']
DOI: https://doi.org/10.3390/nu15153355