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Infant vitamin B 12 deficiency can manifest as a severe neurodegenerative disorder and is usually caused by maternal deficiency due to vegetarian diet or pernicious anaemia. Its early recognition and treatment can prevent potentially serious and irreversible neurologic damage. Biochemically, vitamin B 12 deficiency leads to an accumulation of methylmalonic acid, homocysteine, and propionylcarnitine. Expanded newborn screening using tandem mass spectrometry may identify neonatal and maternal vitamin B 12 deficiency by measurement of propionylcarnitine and other metabolites in the dried blood spot sample of newborns.

Anyai és újszülöttkori B12-vitamin-hiány felismerése kiterjesztett újszülöttkori szűréssel

Anyai és újszülöttkori B₁₂-vitamin-hiány felismerése kiterjesztett újszülöttkori szűréssel