Propionic Acidemia
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Metabolic Disorders
- Albinism
- Pyruvate Dehydrogenase Deficiency
- Pyruvate Kinase Deficiency
- G6PD Deficiency
- Essential Fructosuria
- Hereditary Fructose Intolerance
- Galactosemia
- Galactokinase Deficiency
- Lactase Deficiency
- Ornithine Transcarbamylase Deficiency
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease
- Alkaptonuria
- Homocystinuria
- Cystinuria
- Propionic Acidemia
- Lesch-Nyhan Syndrome
- Systemic Primary Carnitine Deficiency
- MCAD Deficiency
Propionic Acidemia
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Summary
Propionic acidemia is an autosomal recessive metabolic disorder caused by the deficiency of the enzyme, propionyl-CoA carboxylase. This leads to decreased levels of methylmalonic acid, and a toxic buildup of propionic acid, measurable in the blood of affected patients. Typically, this disease presents in infants or young children with hypotonia, hepatomegaly, and seizures.