Conditions / Genetic
propionic acidemia
info · Genetic · ICD-10: E71.121
An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.
Signs and symptoms
- Increased level of hippuric acid in urine
- Global developmental delay
- Lethargy
- Acute encephalopathy
- Dystonia
- Short stature
- Seizure
- Propionyl-CoA carboxylase deficiency
- Hepatomegaly
- Osteoporosis
Also known as: GLYCINEMIA, KETOTIC; KETOTIC HYPERGLYCINEMIA; ketotic II glycinemia; ketotic glycinemia; propionic aciduria