IllnessPropionic acidaemia

NGS +

Sanger

Propionacidemia causes high levels of organic acids in blood, urine and possibly serious health problems. Propionacidemia often becomes relatively non-specific symptomatic a few days after birth with poor food intake, vomiting, loss of appetite, muscle hypotension and lethargy. More serious problems may develop, such as heart problems, seizures and coma. More rarely, the symptoms do not appear until childhood. Some affected children suffer from intellectual deficits or delayed development. In children with the later form, episodes of more serious health problems can be triggered by prolonged fasting, fever or infection. Heredity is autosomal recessive, and the diagnostic yield is very high depending on the corresponding laboratory values and clinical findings.

(Basic genes: PCCA, PCCB)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK92946/

• Alias: Ketotic hyperglycinemia
• Alias: Propionic acidemia (PCCA, PCCB)
• Alias: Propionyl-CoA carboxylase deficiency (PCCA, PCCB)
• Propioncacidemia (PCCA, PCCB)