Propionic acidemia
Rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia / From Wikipedia, the free encyclopedia
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Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency),[1] is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.[2][3]
Quick Facts Other names, Specialty ...
Propionic acidemia | |
---|---|
Other names | Hyperglycinemia with ketoacidosis and leukopenia |
Propionic acid | |
Specialty | Endocrinology |
Symptoms | Poor muscle tone, lethargy, vomiting |
Diagnostic method | Genetic testing; high levels of propionic acid in the urine |
Treatment | Low-protein diet |
Prognosis | Development may be normal, or patients may have lifelong learning disabilities |
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The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone.[4] Without treatment, death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or brain damage.[5]