Developmental delay, seizures, macrocephaly, hypopigmented hair, skin pigmentation abnormalities, and metabolic acidosis should always raise suspicion for an underlying inherited metabolic disorder. Methylmalonic acidemia is an important and treatable cause of neurodevelopmental impairment in children. Early recognition, metabolic evaluation, and targeted therapy can significantly improve outcomes and prevent recurrent metabolic crises. #MethylmalonicAcidemia #MetabolicDisorders #DevelopmentalDe
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Developmental delay, seizures, macrocephaly, hypopigmented hair, skin pigmentation abnormalities, and metabolic acidosis should always raise suspicion for an underlying inherited metabolic disorder. Methylmalonic acidemia is an important and treatable cause of neurodevelopmental impairment in children. Early recognition, metabolic evaluation, and targeted therapy can significantly improve outcomes and prevent recurrent metabolic crises. #MethylmalonicAcidemia #MetabolicDisorders #DevelopmentalDe
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