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Card
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Title
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Propionic acidemia
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ImagePath
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System
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organic acidemia
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Overview
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Accumulation of propionic acid causes anion‑gap metabolic acidosis
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Pathophysiology
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Autosomal recessive deficiency of propionyl‑CoA carboxylase (biotin cofactor) in catabolism of odd‑chain FA, Val, Ile, Met, Thr
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Presentation
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Neonatal poor feeding, vomiting, hypotonia, seizures, hyperammonemia, AG acidosis
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Diagnosis
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↑Propionic acid, ↑3‑OH‑propionate, ↑glycine in plasma; metabolic acidosis
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Management
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Protein‑restricted diet (low VOMIT AAs), biotin; emergency IV glucose/lipids during catabolism
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Epidemiology
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Incidence 1:100 000
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Tags
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