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Browse result for Propionic acidemia

※ introduction

    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. 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.

Reference
Wiki: Propionic acidemia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03761P051655095
PCCA
Propionyl-CoA carboxylase alpha chain, mitochondrial
Homo sapiens
PTMD03762P051665096
PCCB
Propionyl-CoA carboxylase beta chain, mitochondrial
Homo sapiens