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- W1518783485 abstract "Aim: A 6-month-old infant with severe hyporegenerative anaemia, muscular hypotonia and developmental delay is reported, and the metabolic, diagnostic and therapeutic implications of this case are discussed. Results: Diagnostic work-up disclosed vitamin B12 depletion with an elevated excretion of methylmalonic acid (MMA), but a normal plasma total homocysteine. MRI showed fronto-temporal atrophy and a delay in myelinization. The boy’s disease was attributable to a maternal atrophic gastritis. After initiation of vitamin B12 supplementation, he quickly recovered regarding haematopoiesis and MMA excretion. His neurological development completely normalized during 18 months of follow-up including assessment by Bayley scores. Conclusion: As the majority of reported patients with this acquired form of methylmalonic aciduria show a persistent neurological deficit, early diagnosis of this condition is mandatory and should include sensitive markers of vitamin B12 depletion, namely MMA formation and plasma homocysteine." @default.
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- W1518783485 date "2011-03-24" @default.
- W1518783485 modified "2023-09-25" @default.
- W1518783485 title "Intact recovery from early ‘acquired methylmalonic aciduria’ secondary to maternal atrophic gastritis" @default.
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- W1518783485 doi "https://doi.org/10.1111/j.1651-2227.2011.02242.x" @default.
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