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 algo...

Пропионовая ацидемия (ПА) - редкое наследственное заболевание с аутосомно-рецессивным типом наследования, относится к «классическим», т.е. наиболее часто диагностируемым органическим ацидемиям. В данной работе представлена биохимическая и молекулярно-генетическая характеристика 16 пациентов ПА, выявленных в Российской Федерации. У большинства обследованных первые симптомы проявились месяцы жизн...

Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that caused by defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in accumulation propionic acid. If patient having conditions with increased demand followed catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and cases ar...

Propionic acidaemia (OMIM 606054) is an autosomal recessive organic acid metabolism disorder that involves a defective form of propionyl-CoA carboxylase (PCC). The disease usually manifests with acute and potentially fatal episodes of metabolic decompensation and delays in cognitive development. Its association with cardiomyopathy, usually dilated, is well known, and usually manifests during th...