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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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AR deficiency of propionyl‑CoA carboxylase → accumulation of propionic acid, ↓ gluconeogenesis & urea cycle.
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Pathophysiology
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Toxic organic acids cause metabolic acidosis & hyperammonemia.
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Presentation
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Neonate: poor feeding, vomiting, hypotonia, anion‑gap metabolic acidosis, hepatomegaly, seizures.
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Diagnosis
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↑ propionyl‑carnitine on newborn screen; labs: metabolic acidosis, hyper‑NH3, ketosis, ↓ glucose.
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Management
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Low‑protein diet restricted in odd‑chain FAs & amino acids Val, Ile, Met, Thr; carnitine; emergency IV glucose/lipids.
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Epidemiology
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Tags
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