Propionic acidemia
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
| 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 |
The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. Without treatment, death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or brain damage.
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